Legal Termination Of Pregnancy Research Articles

Observational study of sociocultural candidates of legal termination of pregnancy

Background: ILE (legal interruption of pregnancy) is a legal right of all people with the capacity to gestate that was promulgated in January 2021 – Law 27,610, its application being mandatory throughout the Argentine Republic. ILE provides the interruption up to the 14th week of pregnancy and the procedure must be performed up to ten days after the interruption has been requested. The law is applicable to any age, including adolescents under 16 years of age, and in these cases, it is not necessary to submit an affidavit, since any activity that involves children is considered sexual violence. TheMedical teams must guarantee privacy, autonomy, confidentiality, and dignified treatment. Material and methods: A series of anonymous data was compiled from patients at the Ana Goitia acute maternal and Child specialized hospital of patients who requested ILE during the first trimester of pregnancy to establish the socio-cultural profile of these patients. Results: An analysis was carried out on 522 women who requested ILE in 2021 and 2022, and it could be inferred that the number of patients who requested ILE according to age was (10.5%) of patients aged 10 to 19 years, (51, 3%) of the patients with 20 to 29 years, (33.3%) of the patients with 30 to 39 years and (5.0%) of the patients with 40 to 49 years. In addition, within the MAC (contraceptive methods) chosen by these people after adequate counseling and the procedure, the IUD was chosen by (50.9%), the SIU had a percentage of (100%), the ACI (45.2 %), the ISD had a (50%) and the ACO (55.2%).Conclusion: It has been verified that not only counseling about contraceptives is important, but also social, family, and economic support as a support resource for the most vulnerable groups, before and after the legal interruption.

Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.

Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birth. The prenatal diagnosis of these anomalies can significantly impact the overall health of the pregnant individual and may influence her decision regarding the continuation of the pregnancy. In contexts where safe pregnancy termination is not guaranteed by the state, it can lead to unsafe procedures with severe consequences. In our research, we analyzed epidemiological information on CA to develop potential indicators of inequity in access to safe abortion prior to the legalization of legal termination of pregnancy in Argentina. We included cases from 13 public hospitals and 9 non-public subsector hospitals, from the period 2013-2020. Two groups of specific CA were selected: 1) CA capable of being prenatally diagnosed, and 2) CA related to vascular disruptive events. 10/18 of the selected CA capable of being prenatally diagnosed had a significantly higher prevalence in public hospitals (anencephaly, encephalocele, spina bifida, microcephaly, hydrocephalus, holoprosencephaly, hydranencephaly, diaphragmatic hernia, gastroschisis, bilateral renal agenesis). Non public hospitals had higher prenatal detection. Birth prevalence of CA related with vascular disruptive events (limb reduction, Moebius syndrome, amniotic band sequence) were significantly higher in public hospitals. These results suggest disparities in access to prenatal diagnosis and safe abortion based on socioeconomic status. There was a significant gap in access to prenatal diagnosis for CA and possibly to safe elective abortion depending on the type of institution (public vs. non-public).

Multivariate logistic regression analysis of risk factors for birth defects: a study from population-based surveillance data

ObjectiveTo explore risk factors for birth defects (including a broad range of specific defects).MethodsData were derived from the Population-based Birth Defects Surveillance System in Hunan Province, China, 2014–2020. The surveillance population included all live births, stillbirths, infant deaths, and legal termination of pregnancy between 28 weeks gestation and 42 days postpartum. The prevalence of birth defects (number of birth defects per 1000 infants) and its 95% confidence interval (CI) were calculated. Multivariate logistic regression analysis (method: Forward, Wald, α = 0.05) and adjusted odds ratios (ORs) were used to identify risk factors for birth defects. We used the presence or absence of birth defects (or specific defects) as the dependent variable, and eight variables (sex, residence, number of births, paternal age, maternal age, number of pregnancies, parity, and maternal household registration) were entered as independent variables in multivariate logistic regression analysis.ResultsOur study included 143,118 infants, and 2984 birth defects were identified, with a prevalence of 20.85% (95%CI: 20.10–21.60). Multivariate logistic regression analyses showed that seven variables (except for parity) were associated with birth defects (or specific defects). There were five factors associated with the overall birth defects. The risk factors included males (OR = 1.49, 95%CI: 1.39–1.61), multiple births (OR = 1.44, 95%CI: 1.18–1.76), paternal age < 20 (OR = 2.20, 95%CI: 1.19–4.09) or 20–24 (OR = 1.66, 95%CI: 1.42–1.94), maternal age 30–34 (OR = 1.16, 95%CI: 1.04–1.29) or > = 35 (OR = 1.56, 95%CI: 1.33–1.81), and maternal non-local household registration (OR = 2.96, 95%CI: 2.39–3.67). Some factors were associated with the specific defects. Males were risk factors for congenital metabolic disorders (OR = 3.86, 95%CI: 3.15–4.72), congenital limb defects (OR = 1.34, 95%CI: 1.14–1.58), and congenital kidney and urinary defects (OR = 2.35, 95%CI: 1.65–3.34). Rural areas were risk factors for congenital metabolic disorders (OR = 1.21, 95%CI: 1.01–1.44). Multiple births were risk factors for congenital heart defects (OR = 2.09, 95%CI: 1.55–2.82), congenital kidney and urinary defects (OR = 2.14, 95%CI: 1.05–4.37), and cleft lip and/or palate (OR = 2.85, 95%CI: 1.32–6.15). Paternal age < 20 was the risk factor for congenital limb defects (OR = 3.27, 95%CI: 1.10–9.71), 20–24 was the risk factor for congenital heart defects (OR = 1.64, 95%CI: 1.24–2.17), congenital metabolic disorders (OR = 1.56, 95%CI: 1.11–2.21), congenital limb defects (OR = 1.61, 95%CI: 1.14–2.29), and congenital ear defects (OR = 2.13, 95%CI: 1.17–3.89). Maternal age < 20 was the risk factor for cleft lip and/or palate (OR = 3.14, 95%CI: 1.24–7.95), 30–34 was the risk factor for congenital limb defects (OR = 1.37, 95%CI: 1.09–1.73), >=35 was the risk factor for congenital heart defects (OR = 1.51, 95%CI: 1.14–1.99), congenital limb defects (OR = 1.98, 95%CI: 1.41–2.78), and congenital ear defects (OR = 1.82, 95%CI: 1.06–3.10). Number of pregnancies = 2 was the risk factor for congenital nervous system defects (OR = 2.27, 95%CI: 1.19–4.32), >=4 was the risk factor for chromosomal abnormalities (OR = 2.03, 95%CI: 1.06–3.88) and congenital nervous system defects (OR = 3.03, 95%CI: 1.23–7.47). Maternal non-local household registration was the risk factor for congenital heart defects (OR = 3.57, 95%CI: 2.54–5.03), congenital metabolic disorders (OR = 1.89, 95%CI: 1.06–3.37), congenital limb defects (OR = 2.94, 95%CI: 1.86–4.66), and congenital ear defects (OR = 3.26, 95%CI: 1.60–6.65).ConclusionIn summary, several risk factors were associated with birth defects (including a broad range of specific defects). One risk factor may be associated with several defects, and one defect may be associated with several risk factors. Future studies should examine the mechanisms. Our findings have significant public health implications as some factors are modifiable or avoidable, such as promoting childbirths at the appropriate age, improving the medical and socio-economic conditions of non-local household registration residents, and devoting more resources to some specific defects in high-risk groups, which may help reducing birth defects in China.

“I still don’t know how someone gets pregnant”: determinants of poor reproductive health among young female refugees in South Africa

BackgroundStudies exploring the sexual and reproductive health (SRH) of refugee women have focused primarily on first generation refugees in humanitarian and crisis settings. There is a paucity of research exploring the reproductive health of girls and young women who are born to refugee parents in a host country or who have migrated with their parents at a very young age and who have since reached sexual maturity. We conducted a qualitative study which aimed to explore the reproductive health and rights’ needs and challenges amongst young refugee women in South Africa.MethodsThe study was carried out in the city of eThekwini (Durban) in South Africa in 2021 and 2022. A total of 35 semi-structured, in person interviews were conducted amongst young refugee women between the ages of 18 and 24 years living in the city centre.ResultsTwenty-five participants were 17 years or younger on arriving in South Africa, one of whom was born in South Africa. Eleven of these women had experienced one or more pregnancies while living in South Africa and all of these women had experienced at least one unintended pregnancy. Participants had poor reproductive health knowledge of the role of menstruation and how conception occurs. Economic, social, and legal insecurities intersected in complex ways as determinants of poor reproductive health outcomes. Despite availability, contraceptive use was poor and linked to lack of knowledge, myths and unwanted side effects. There were negative economic and social impacts for young refugee women experiencing early pregnancies irrespective of whether they were intended or not. Being unable to conceive or experiencing an unintended pregnancy negatively impacted sexual relationships which were entered primarily for material support. Desire for confidentiality shaped lack of access to legal termination of pregnancy in the public health sector.ConclusionParticipants experienced specific vulnerabilities resulting from their position as refugees despite length of stay in South Africa. It is important to better understand these specificities in the design of programmes and policies aimed at ensuring positive health outcomes for these young women. Peer education amongst refugee communities may be an important tool in the provision of culturally acceptable SRH education.

Abortion in Northern Ireland: From Limbo to Law

If abortion is now (2024) decriminalized North and South of the Irish border, a certain number of legal and non‑legal obstacles prevent Irish women from accessing services of a free, safe and legal termination of pregnancy. This article proposes to examine the impact of multi‑level governance on abortion legislation in order to understand how historical, political, geographical, religious and ideological divisions have limited women’s and human rights in terms of access to bodily autonomy.Scrutinizing the triangular relation between England, Northern Ireland and the Republic Ireland, this article will show that England has been the major focal point of contention when it comes to abortion legislation.

Changes in abortion legislation and admissions to paediatric intensive care in Ireland

The Health (Regulation of Termination of Pregnancy) Act 2018 was commenced on 01/01/2019 in Ireland. The Act provides for legal termination of pregnancy under defined circumstances including for any reason at &lt; 12 weeks gestation; and where two doctors agree there is ‘a condition affecting the foetus that is likely to lead to the death of the foetus either before, or within 28 days of, birth’. As such, abortion for congenital anomaly (CA) can occur at a number of time points, depending on the adjudged severity. Infants born with CAs frequently require significant medical intervention and account for a high proportion of admissions to paediatric intensive care units (PICUs). The purpose of this paper was to evaluate the number of infants with CAs admitted to an Irish PICU in the period before and after the implementation of the Act. All PICU admissions &lt; 1 month of age to a single Irish paediatric hospital between 2012 and 2021 were analysed. CAs were recorded, and the periods before and after the commencement of the Act compared. We found a difference in admissions involving CAs, particularly those related to congenital heart disease involving single ventricle anatomy. It is plausible that this difference was as a result of improved access to abortion services following the implementation of the Act. This article explores the legal conditions related to the abortion of a foetus with a CA in Ireland, and the possible impact of the Independent Review of the Operation of the Health ( Regulation of Termination of Pregnancy) Act 2018.

The Impact of the COVID-19 Pandemic on the Care of Women Experiencing Abortion in a University Hospital in Brazil.

To evaluate the impact of the coronavirus disease 2019 (COVID-19) pandemic on the care of patients with miscarriage and legal termination of pregnancy in a university hospital in Brazil. A cross-sectional study of women admitted for abortion due to any cause at Hospital da Mulher Prof. Dr. J. A. Pinotti of Universidade Estadual de Campinas (UNICAMP), Brazil, between July 2017 and September 2021. Dependent variables were abortion-related complications and legal interruption of pregnancy. Independent variables were prepandemic period (until February 2020) and pandemic period (from March 2020). The Cochran-Armitage test, Chi-squared test, Mann-Whitney test, and multiple logistic regression were used for statistical analysis. Five-hundred sixty-one women were included, 376 during the prepandemic period and 185 in the pandemic period. Most patients during pandemic were single, without comorbidities, had unplanned pregnancy, and chose to initiate contraceptive method after hospital discharge. There was no significant tendency toward changes in the number of legal interruptions or complications. Complications were associated to failure of the contraceptive method (odds ratio [OR] 2.44; 95% confidence interval [CI] 1.23-4.84), gestational age (OR 1.126; 95% CI 1.039-1.219), and preparation of the uterine cervix with misoprostol (OR 1.99; 95% CI 1.01-3.96). There were no significant differences in duration of symptoms, transportation to the hospital, or tendency of reducing the number of legal abortions and increasing complications. The patients' profile probably reflects the impact of the pandemic on family planning.

Factors Affecting Early Intrauterine Device Expulsion Inserted Immediately After Voluntary Termination of Pregnancy

Background: Post-abortion insertion of an intrauterine device (IUD) is recommended for the prevention of repetitive voluntary termination of pregnancy (VTOP) in women who choose to have a reliable contraceptive method. Aim: This study aimed to analyze the incidence of IUD dislocation and its factors in patients who had an IUD immediately inserted after VTOP. Methods: In this retrospective study, 288 consequent patients who came to our hospital for VTOP between August 1st, 2018 to August 26th, 2019, and had given signed consent for immediate IUD insertion were taken as the study group. The demographic characteristics, obstetric history, and gestational age at the time of the procedure were obtained from the patient records. On the 10th day of post-abortion, the localization of the IUD was evaluated by speculum examination and transvaginal ultrasonography. The effects of obstetric history and gestational age at the time of termination on IUD dislocation rates were analyzed statistically. Results: The overall incidence of IUD dislocation was 16.3 % at the 10th-day follow-up visit. The incidence of IUD dislocation was similar in patients with gestational age &lt; 5w, 5-7w, and 7-10w (21 %, 14.5 %, and 13 %, respectively, p=0.36). However, the incidence increased with high gravity and parity. The gravity, parity, number of vaginal deliveries, and cesarean section were higher in patients with an IUD dislocation than the ones with an IUD in place. Conclusion: The IUD insertion after voluntary legal termination of pregnancy is suitable for all gestational ages. A high number of previous pregnancies and deliveries are risk factors for IUD expulsion after immediate IUD insertion.

Rapid Response Collecting and the Irish Abortion Referendum

The last decade in Ireland has seen rapid societal change, including the enshrining of equal marriage and women’s right to bodily autonomy in the constitution via public referendum. In response, the National Museum of Ireland enacted a programme of collecting the material culture of such significant contemporary events in Ireland, which led to the formal establishment of the Contemporary Ireland Collection. The material culture of the referendum on the abolishment of the 8th Amendment of the Irish Constitution (Repeal the 8th) to allow for the legal termination of pregnancy formed the nucleus of the collection, and the rationale behind the identification of the representative themes and subsequent object choices has become the template on which further contemporary collecting is now based. This has enabled the institution and its curators to work collaboratively with the public in the expansion of its collections to fill the historic gaps and become more inclusive and representative of Ireland’s varied and difficult history.

Powstanie ciąży w następstwie czynu zabronionego jako przesłanka legalnego jej przerwania

One of the prerequisites for legal termination of pregnancy is its arising as a result of a prohibited act. The article is devoted to its analysis from a broader perspective of legal regulations of termination of pregnancy and to refer to its details.

"The system is still precarious". Barriers in access to medical abortion: the experience of accompanying persons in three regions of Mexico

The study aimed to identify the most frequent barriers in access to abortions in both clandestine and legal clinical contexts, from the perspective of accompanying persons, namely feminist activists who accompanied women that opted for voluntary abortions with medication. We performed 14 semi-structured interviews with accompanying persons in three regions of Mexico: Baja California and Chiapas, both of which are restrictive contexts, and Mexico City, where elective abortion is legal up to 12 weeks' gestational age. We identified four categories in which the social vulnerabilities of women who elect to undergo abortion intersect, namely lack of information, persistence of stigma, influence of the legal framework, and flaws in abortion care, including in clinics for legal termination of pregnancy (in Mexico City), and poor quality of the services provided, with verbal abuse, conscientious objection, and healthcare provider complaints, and finally the antichoice groups and their strategies. In the three regions, access to abortion clinics is still a privilege reserved for women with the necessary economic, logistic, and socials resources for the procedure in these settings. The existence of a program for legal termination of pregnancy (Interrupción Legal de Embarazo) in only one entity reveals the existence of a legal and health inequality. The study's findings on accompanying persons for women undergoing abortions provide backing for the Mexican government to improve access to safe abortions for all women, especially now that the country's Supreme Court has decreed the procedure's decriminalization and its imminent nationwide legalization.

The right to abortion during the COVID-19 pandemic in foreign countries: diversification of approaches

The article, based on a comparative analysis of the practice of foreign countries, examines the main trends in the development of the rights to legal termination of pregnancy (abortion), which were subject to restrictions during the COVID-19 pandemic. It is shown that in the context of the pandemic, access to abortion has decreased in almost all states, with a few exceptions. At the same time, significant restrictions on reproductive rights occur in the context of previously developed strategies and are directed towards the radicalization of approaches to abortion, which is demonstrated on the basis of an analysis of the decision of the Constitutional Tribunal of Poland of October 22, 2020, as an attempt by conservative politicians and the Catholic Church to finally limit reproductive choice and legitimize their priorities in the dispute about the beginning of the life of the human fetus. Ambiguous approaches to the regulation of abortion show that reforms are not complete and that abortion policy needs to be further explored during COVID-19.

MTP After 20weeks: When & How?

Medical Termination of pregnancy is a common gynaecological procedure. Unlike other procedures, this procedure has ethical, moral and legal overtones. Medical termination of pregnancy is governed strictly by the Medical Termination of pregnancy Act (MTP Act). The law allows termination of pregnancy [TOP] for "certain" indications and only until "certain" weeks of pregnancy. This poses serious dilemma in front of the gynaecologist. Judicial activism by the author paved way to significant relaxations and amendment to the law. These amendments, when applicable, will enable women and their care givers to undergo legal termination of pregnancy even after twenty weeks in certain situations. The MTP Act has been amended in 2021 by the parliament. After the rules and regulations are amended, it is likely to get applicable soon. The new law has resolved few dilemmas and created new ethical and legal issues.

Alpha\u2010actinin\u20104 is essential for maintaining normal trophoblast proliferation and differentiation during early pregnancy

BackgroundProper differentiation of trophoblasts in the human placenta is essential for a successful pregnancy, whereas abnormal regulation of this process may lead to adverse pregnancy outcomes, especially preeclampsia (PE). However, the underlying mechanism of trophoblast differentiation remains unclear. Previous studies have reported the involvement of alpha-actinin-4 (ACTN4) in the actin cytoskeleton dynamics and motility. Hence, we hypothesized that ACTN4 may act as an important regulator in the normal proliferation and differentiation of trophoblasts during early pregnancy.Method:To test this hypothesis, we collected villous tissues from women undergoing a legal pregnancy termination during 6–10 weeks of gestation and explanted them for cell culture and siRNA transfection. We also obtained placental tissues from PE patients and healthy pregnant women and isolated the primary cytotrophoblast (CTB) cells. The expression of ACTN4 in the CTBs of placental villi and during the differentiation of CTBs into STBs was detected by immunofluorescence, immunohistochemistry (IHC), and EdU proliferation assays. Besides, villous explant, Matrigel invasion, transwell migration assay, and Wound-healing assay were performed to identify the possible role of ACTN4 in the outgrowth of explants and the invasion, migration, and proliferation of cell column trophoblasts (CCTs). Western blot analysis was carried out to compare the protein expression level of AKT, Snail activities, and epithelial-to-mesenchymal transition (EMT) in the villi or HTR8/SVneo cells with ACTN4 knockdown.ResultsACTN4 was highly expressed in CTB cells and interstitial extravillous trophoblast (iEVT) cells but not found in the syncytiotrophoblast (STB) cells in the first trimester villi. Downregulation of ACTN4 led to reduced trophoblast proliferation and explant outgrowth ex vivo, as well as iEVT invasion and migration in vitro due to disrupt of actin filaments organization. Such ACTN4 inhibition also decreased AKT and Snail activities and further impeded the EMT process. In addition, ACTN4 expression was found to be downregulated in the iEVTs from preeclamptic placentas.ConclusionsOur findings suggest that ACTN4 may act as an important regulator of trophoblast proliferation and differentiation during early pregnancy, and dysregulation of this protein may contribute to preeclampsia pathogenesis.

Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report

Background: Trisomy mosaicism of chromosome 5 is uncommon with few cases described. Case report: A 41-year-old woman underwent ultrasound (US) at 16 weeks, which showed oligohydramnios and intrauterine growth restriction (IUGR). Amniocentesis discovered a karyotype of 47,XX,+5/46,XX. US at 19 weeks disclosed IUGR, enlargement of right side of heart, main pulmonary artery dilatation, and a suspected congenital pulmonary airway malformation (CPAM) in the inferior lobe of the left lung. Due to poor fetal prognosis, the parents opted for legal termination of pregnancy. At postmortem, a wide ventricular septal defect and CPAM type 3 were found. Cytogenetic analyses on fetal tissues detected mosaic trisomy 5 in skin, thymus, kidneys and CPAM. Placenta and fetal peripheral blood revealed normal female karyotype. Discussion/conclusion: These results suggest that if a fetus presents normal phenotypic features, mosaicism may be confined to extraembryonic structures, otherwise, in case of malformations, it may be carried by affected organs.

Currículos de salud sexual y reproductiva en programas de educación superior para América Latina

Objetivo: identificar la inclusión de la propuesta temática curricular de la Federación Latinoamericana de Obstetricia y Ginecología (FLASOG) sobre salud sexual y reproductiva en programas de pregrado (Medicina) y posgrado (Obstetricia y Ginecología) en un grupo de universidades e instituciones de educación superior de Latinoamérica y el Caribe. Método: estudio descriptivo de corte transversal en el cual se aplicó una encuesta a universidades de Latinoamérica y El Caribe durante el año 20 para determinar si los contenidos de los programas con relación a salud sexual y reproductiva corresponden a la propuesta temática de la FLASOG, tanto en pregrado (Medicina) como en posgrado (Obstetricia y Ginecología). Resultados: todos los programas de pregrado evaluados incluyen dentro del currículo los siguientes temas: métodos anticonceptivos, aborto y morbimortalidad materna y el 36,4 %contemplan salud sexual en la tercera edad. Todos los programas de posgrado evaluados estudian métodos anticonceptivos, anticoncepción en posparto y posaborto, morbimortalidad materna, aborto, y maternidad saludable. Solo el 55,6 % de ellos tienen temáticas relacionadas con interrupción voluntaria del embarazo y salud sexual en la tercera edad. Conclusiones: los programas evaluados cuentan con docentes dedicados a educación en salud sexual y reproductiva en sus programas, aunque en la mayoría de las instituciones (76,9 %) no existe un proceso formal de evaluación y retroalimentación. Todas las universidades que respondieron la encuesta trabajan tres temas en sus contenidos curriculares de pregrado: aborto, anticoncepción y morbimortalidad materna, tópicos que han sido considerados de alto impacto en la salud sexual y reproductiva de las mujeres. La interrupción voluntaria del embarazo se discute en dos de cada tres universidades que respondieron la encuesta. El tema de salud sexual en la tercera edad no se incluye en los programas.

Knowledge on medical abortion among Brazilian medical residents in Gynecology and Obstetrics.

Medical or drug-induced abortion has been proven as an effective means for termination of pregnancy. However, training of providers in the use of misoprostol has been limited. The current article aims to identify the degree of knowledge on medical abortion among Brazilian medical residents in Gynecology and Obstetrics. A multicenter cross-sectional study was performed with residents regularly enrolled in residency programs in Gynecology and Obstetrics in 21 teaching hospitals. A self-responded questionnaire was used. Correct responses to each of the alternatives were identified, and a binary response variable (≥ P70, < P70) was defined by the 70th percentile of the number of questions on misoprostol. Four hundred and seven medical residents returned the questionnaire, of which 404 were completed and three were blank. The majority (56.3%) of the residents were 27 years or younger, females (81.1%), and single or not living with a partner (70%). Two-thirds (68.2%) were in the first or second year of residency. Only 40.8% of the participants answered 70% or more of the questions correctly. In the multivariate analysis, enrollment in the third year of residency or greater (OR = 2.18; 95%CI: 1.350-3.535) and having participated in treatment of a woman with induced or probably induced abortion (OR = 4.12; 95%CI: 1.761-9.621) were associated with better knowledge on the subject. Among Brazilian medical residents in Gynecology and Obstetrics, knowledge on medical abortion is very limited and poses an obstacle to proper care in cases of legal termination of pregnancy.

Access to reproductive options after prenatal diagnosis—patient access and physician responsibilities: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)

The American College of Medical Genetics and Genomics (ACMG) is concerned with the enactment of laws in some states that prevent or restrict access to termination of pregnancy after prenatal diagnosis of genetic disorders or congenital anomalies. The practice of medical genetics is predicated on the principle of providing patients with complete and accurate information on the condition that affects them, a member of their family, or an unborn fetus, and then discussing the management options that are available. The ACMG believes strongly that a balanced discussion of reproductive options is required. In some cases, patients will elect to alter the course of their pregnancy or pregnancy care. Patients may decide to investigate adoption or choose to learn about the expected outcome, neonatal care, and long-term care of a child with disabilities. They may also choose termination of pregnancy. Pregnancy termination should be available to pregnant women when their fetus has been diagnosed with a genetic disorder or congenital anomaly. Ideally, this is considered after discussions between the patient’s healthcare provider(s) and the pregnant woman or couple with the goal of facilitating their choice of a safe and acceptable management plan. Access to safe and legal termination of pregnancy for genetic disorders or congenital anomalies that are diagnosed prenatally is an important option for some patients, and the ACMG strongly opposes any legislation that places limits on this access. Further, it is the legal and ethical responsibility of health-care professionals to provide complete and accurate information including all management options to patients. Laws that criminalize healthcare professionals for informing patients of their options, including termination of pregnancy, are contrary to the sanctity of the doctor–patient relationship and principles of autonomy. Accordingly, ACMG strongly opposes any legislation that prohibits healthcare professionals from providing complete and accurate medical care, or in any manner penalizes the provision of such care. The authors declare no conflicts of interest. Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This statement is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this statement is completely voluntary and does not necessarily assure a successful medical outcome. This statement should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement. Clinicians also are advised to take notice of the date this statement was adopted, and to consider other medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures. The Board of Directors of the American College of Medical Genetics and Genomics approved this statement on 20 April 2018.

Prenatal ultrasonographic diagnosis of the fetal ductus venosus abnormalities

Objective To explore the prenatal ultrasound image features and clinical significance of fetal ductus venosus abormalities. Methods Fifteen fetuses with ductus venosus abormalities diagnosed by prenatal ultrasonography at Peking University Third Hospital were retrospective review. The prenatal findings, umbilical shunting type, perinatal outcomes, and autopsy reports were analyzed. Results Fourteen fetuses were found with absence of ductus venosus. In 6 fetuses the umbilical vein connected to the portal vein, 5 fetuses the umbilical vein connected to the inferior vena cava and 3 fetuses the umbilical vein connected to the right atrium. The remaining 1 fetus was found obliteration of ductus venosus. Absence of ductus venous showed no normal ductus venous and the umbilical vein almost always drained directly into portal vein, inferior vena cava or right atrium. Obliteration of ductus venous showed normal ductus venous was replaced by a tiny echogenic string without blood flow. Three cases had intracardiac and extracardiac abnormalities; 4 cases had extracardiac abnormalities only; 8 of these, ductus venosus abormality were isolated. Two cases had trisomy 21 syndrome. Four patients underwent legal termination of pregnancy; 2 were intrauterine fetal death; and 8 carried to term wit normal outcome; the remaining one underwent operation due to extracardiac abnormality and postoperative course was uneventful. Conclusions Prenatal ultrasound can be used to diagnose fetal ductus venosus abormalities. Hemodynamic depends on umbilical venous drainage site and diameter. The prognosis for this group of anomalies depends on the chromosomal abnormalities and additional findings. Chromosome and ultrasonic monitoring are suggested for following pregnancy. Key words: Ultrasonography; Fetus; Absence of ductus venosus; Obliteration of ductus venosus

The effects of preconception examinations on birth defects: a population-based cohort study in Dongguan City, China

Objective: To evaluate the effect of preconception examinations programs on the prevention of birth defects in Dongguan City during 2013–2017.Methods: The data were from preconception examinations system and the birth defects surveillance system during 2013–2017. The study population included 63,175 infants born to mothers accepted preconception examinations during pregnancy (the screening group) and 649,862 infants whose mother did not check (the control group). The infants included for stillbirth, dead fetus, live birth between 28 weeks of gestation and 7 days after birth and legal pregnancy termination. The risk ratios (RRs) and 95% confidence intervals (CIs) were calculated to examine for the association between birth defects and preconception examinations. We also conducted a stratified analysis based on infant gender and disease classification, and maternal age and region.Results: The incidence of birth defects in the screening group was 134.55/10,000, while that in the control group was 241.53/10,000. Preconception examinations can effectively reduce the incidence of birth defects (BDs) (RR: 0.557, 95%CI: 0.520–0.597). Bifid spine (RR: 0.076, 95%CI: 0.011–0.545), anencephalia (RR: 0.134, 95%CI: 0.033–0.543) and anorectal atresia or stenosis (RR: 0.151, 95%CI: 0.048–0.471) were controlled best, and Down syndrome (RR: 0.684, 95%CI: 0.435–1.075) was no effect. Young maternal age (14–19 years) and old maternal age will increase the risk of birth defects. Preconception examinations had the best effect for pregnant women under 25 years of age (RR: 0.465, 95%CI: 0.387–0.559), and were relatively poor for women aged 30–34 years (RR: 0.678, 95%CI: 0.593–0.776). The incidence of the urban was significantly higher than that of the rural. The effect of preconception examinations to prevent birth defects was more effective in urban areas (RR: 0.453, 95%CI: 0.391–0.525) than in rural areas (RR: 0.577, 95%CI: 0.533–0.625). The incidence of BDs in males was higher than that in females.Conclusions: By implementing preconception examinations project, birth defects in Dongguan have been well controlled. This can provide reference for other developing countries to prevent birth defects.