Prenatal Diagnostic Procedures Research Articles

Heterokaryotypic Monochorionic Twin Pregnancy: New Perspective

AbstractMonozygotic twins are thought to be identical since they are created from a single fertilized egg, yet there may be differences in their congenital defects, birth weight, and genetic makeup. Asymmetric X chromosome inactivation, unequal gene imprinting, and postzygotic mitotic mistakes including nondisjunction and anaphase lag can all result in heterokaryotypic monochorionic twins. We report a monochorionic twin pregnancy that exhibited stigmata associated with trisomy 18 on postnatal examination despite a low risk of common aneuploidy (trisomy 18) on noninvasive prenatal screening. Short tandem repeat markers were used for postnatal examination to confirm high-grade mosaicism. These markers indicated mosaic trisomy 18 in twin II and normal in twin I, ruling out uniparental disomy and establishing monozygosity in both fetuses. Twin sac amniocentesis is a prenatal diagnostic procedure that can be used to identify discrepant monochorionic twins because chorionic villus sampling, single sac amniocentesis, or cordocentesis may not be able to rule out aneuploidy in the second fetus and may yield a false-negative result. For prompt zygosity diagnosis, chromosomal complement, genetic counseling, and referral for selective fetal reduction, twin sac amniocentesis is recommended.

The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities.

Chromosomal microarray analysis (CMA) has emerged as a critical instrument in prenatal diagnostic procedures, notably in assessing congenital heart diseases (CHD). Nonetheless, current research focuses solely on CHD, overlooking the necessity for thorough comparative investigations encompassing fetuses with varied structural abnormalities or those without apparent structural anomalies. This study sought to assess the relation of single nucleotide polymorphism-based chromosomal microarray analysis (SNP-based CMA) in identifying the underlying causes of fetal cardiac ultrasound abnormalities. A total of 2092 pregnant women who underwent prenatal diagnosis from 2017 to 2022 were included in the study and divided into four groups based on the presence of ultrasound structural abnormalities and the specific type of abnormality. The results of the SNP-Array test conducted on amniotic fluid samples from these groups were analyzed. Findings from the study revealed that the non-isolated CHD group exhibited the highest incidence of aneuploidy, overall chromosomal abnormalities, and trisomy 18, demonstrating statistically significant differences from the other groups (p < 0.001). Regarding the distribution frequency of copy number variation (CNV) segment size, no statistically significant distinctions were observed between the isolated CHD group and the non-isolated CHD group (p > 0.05). The occurrence rates of 22q11.2 and 15q11.2 were also not statistically different between the isolated CHD group and the non-isolated congenital heart defect group (p > 0.05). SNP-based CMA enhances the capacity to detect abnormal CNVs in CHD fetuses, offering valuable insights for diagnosing chromosomal etiology and facilitating genetic counseling. This research contributes to the broader understanding of the utility of SNP-based CMA in the context of fetal cardiac ultrasound abnormalities.

Communication of the diagnosis to Klinefelter subjects: an observational study on a key moment of the patient's life.

Klinefelter syndrome (KS) is the most prevalent sex chromosome disorder among males. The communication of the KS diagnosis holds significant implications for the diagnosis's acceptance. Recently, the increased use of prenatal diagnostic procedures has raised the question of whether, when, and by whom information, once provided to parents, should be communicated to their children/adolescents. Currently, there is limited information on this topic. This study aims to investigate the most suitable timing, content, and healthcare professionals (HCPs) according to KS patients' suggestions for conveying the diagnosis, analyzing the impact of communicating the KS diagnosis on patients and their reception of the communication in real-life situations. Furthermore, research entails a comparison of the actual communication and the patients' preferred mode of communication. Self-reported interview data was collected from 196 adults diagnosed with KS. The interview was structured, consisting of 32 multiple-choice questions covering various areas related to diagnosis communication. Most patients with Klinefelter syndrome reported that earlier communication would have been beneficial. Communication before the age of 18 and by parents increased the likelihood of overcoming negative consequences and relying on psychological support. To mitigate the adverse effects of poorly timed and inadequately delivered communication, typically by a single person, it is advisable that such communication be carried out at the onset of adolescence by an interdisciplinary team of HCPs (including psychologists, geneticists, endocrinologists) and parents. The information provided should not solely concentrate on hormonal and fertility aspects, but also consider other factors such as psychological variables.

Knowledge and attitude of antenatal mothers on the preconception and prenatal diagnostic techniques act attending Government Maternity Hospital in Andhra Pradesh: A cross-sectional study

Background: Girl children are vulnerable to gender biases throughout the economic and social strata. From the moment of conception, a girl’s existence is an ongoing struggle for survival, development, and growth. Gender equality has gained recognition in the past 10 years as essential to a country’s social and economic progress and overall health. Aims and Objectives: The aim of the study was to know the awareness and attitude of antenatal mothers regarding the preconception and prenatal diagnostic techniques (PCPNDT) act, gender preference, and their awareness regarding related social issues. Materials and Methods: A hospital-based cross-sectional study was conducted after obtaining ethics committee approval and consent from 200 antenatal mothers attending a maternity hospital from September to December 2022. Data were collected using a predesigned, pre-tested, semi-structured questionnaire. The analysis was done with Statistical Package for the Social Sciences software version 26.0. Results: Out of 200 study subjects, 80% were in the age group of 19–25 years, 60.5% were aware of the PCPNDT act, and 43.8% of mothers had knowledge about the PCPNDT act from hospital sources. Of the 56% of mothers who preferred a male child, 35.7% said it was first being a girl child. In this study, awareness of the PCPNDT act was significantly associated with age, area of living, religion, education, occupation, and socio-economic status, but not with type of family. Conclusion: Despite better knowledge regarding the PCPNDT act, the attitude toward sex determination, female foeticide, and son preference has to be changed. For this reason, strict implementation of the PCPNCDT act is essential.

Indications and results of prenatal invasive diagnosis (amniocentesis, chorionic villus sampling, cordocentesis): A tertiary center experience

Objective: To evaluate the indications for prenatal invasive procedures and karyotype results in pregnant women Materials and Methods: We conducted a retrospective analysis of the indications and karyotype results of pregnant women who opted for invasive diagnostic testing in a tertiary center between September 2022 and May 2023. Results: Of the 331 patients who underwent prenatal genetic diagnosis, 267 underwent amniocentesis (80.7%), 62 underwent chorionic villus sampling (18.7%), and 2 underwent cordocentesis (0.6%). The most common indication for amniocentesis was an elevated risk in first-trimester screening tests (29.6%). Chorionic villus sampling was most frequently performed due to an increased risk in the first-trimester screening test (37.1%) and because of an increased nuchal translucency (37.1%). Cordocentesis was exclusively performed in cases of abnormal second-trimester ultrasound examinations. Trisomy 21 was most frequently detected in cases with increased nuchal translucency (13.3%). Conclusions: The importance of invasive prenatal diagnostic procedures for the early detection and diagnosis of genetic disorders and the assessment of fetal health is evident. However, the decision to undergo these procedures should be made thoughtfully, with careful consideration of patient counselling and informed consent.

SFM Fetal Therapy Practice Guidelines: Fetal Tissue Biopsy

AbstractPrenatal diagnostic invasive procedures are used to determine if a fetus is at risk of a genetic disease. Analysis based on cells obtained from amniocentesis or chorionic villous sampling is the more commonly performed prenatal diagnostic invasive procedure. For certain indications, however, fetal skin biopsy, muscle biopsy, kidney biopsy, and fetal tissue biopsy of a tumor or mediastinal mass have also been performed. These procedures are rarely indicated in the current scenario when molecular tests are available for most of the genetic conditions. However, there are some genetic conditions for which no specific molecular test is available and prenatal diagnosis can only be done by biopsy of the fetal part during ultrasound guidance.

Amniocentesis learning: Use of a home-made simulator

BackgroundAmniocentesis is the most performed invasive prenatal diagnostic procedure. Learning the procedure is difficult for the learner, the teacher and the patient because of the risks inherent to this technique and the anxiety generated by the procedure. The objective of this work was to evaluate a theoretical and practical amniocentesis training workshop using a simulator. MethodsWe were inspired by Pierre Jean's precepts for the planning of a medical training. We then carried out the pedagogical session with the gynecology residents of our Regional University Hospital, a type 3 maternity hospital in France. We evaluated the theoretical learning through a questionnaire before and after the training and then the practical session on a home-made simulator. The satisfaction of the participants was assessed by a questionnaire at the end of the session. ResultsFifteen learners, from the first to the last semester of internship, participated in the training. The median score of the pre-training questionnaire (“pre-test” questionnaire) was 3.3 out of 10 (min = 1, max = 6) and that of the post-training questionnaire (“post-test” questionnaire) was 7.9 out of 10 (min = 6, max = 9). The post-training scores were significantly higher (p < 0.0007). The average score for the practical training was 30.5 out of 40 (24–36). 93 % of the learners were fully satisfied with the theoretical training and 100 % stated that they had improved their technical skills. ConclusionThe residents in our department expressed a need for training in this invasive procedure of antenatal diagnosis. The training proved to be beneficial following the evaluation of the learning but also following the feedback of the learners.

Optical genome mapping for prenatal diagnosis: A prospective study

PurposeCytogenetic analysis provides important information for prenatal decision-making and genetic counseling. Optical genome mapping (OGM) has demonstrated its performances in retrospective studies. In our prospective study, we assessed the quality of DNA obtained from cultures of amniotic fluid (AF) and chorionic villi (CV) and evaluated the ability of OGM to detect all clinically relevant aberrations identified by standard methods. MethodsA total of 37 prenatal samples from pregnancies with a fetal anomaly on ultrasound were analyzed prospectively by OGM between January 1, 2021 and June 31, 2022. OGM results were interpreted blindly and compared to the results obtained by standard techniques. ResultsOGM results were interpretable in 92% of samples. We observed 100% concordance between OGM and karyotype and/or chromosomal microarray results. In addition, OGM identified a median of 30 small (<100 kb) structural variations per case with the involvement of 12 OMIM genes, of which 3 were OMIM morbid genes. ConclusionThis prospective study showed OGM performed well in detecting genomic alterations in cell cultures from prenatal samples. The place of OGM in relation to CMA or exome sequencing remains to be defined in order to optimize the prenatal diagnostic procedure.

Prenatal diagnosis of 46,XX testicular disorder of sex development with SRY-positive: A case report and review of the literature

We report a case of a fetus with 46,XX testicular disorder of sex development detected prenatally. This fetus was found abnormally due to non‐invasive prenatal testing. Amniocentesis revealed SRY gene on the X chromosome of the fetus. The related literature was reviewed, and the advantages and limitations of various prenatal diagnostic techniques were discussed. The combination of non‐invasive prenatal testing and various prenatal diagnostic techniques has enabled more fetuses with sex reversal to be detected.

Clinical and genetic aspects of termination of pregnancy; tertiary center experience.

The aim of the study was to retrospectively analyze the indications Techniques and complications of pregnancy termination performed in a tertiary center. All cases between 10 and 33 weeks of gestation between January 2021 and June 2023 were retrospectively analyzed. The patients were divided into two groups as group 1 with 11+0 to 21+6 gestational weeks and group 2 for those at 22+0 and 33+0 gestational weeks. A total of 568 pregnancy terminations were included in the study. Among all terminations the most common fetal indications were central nervous system anomalies (148 cases, 26%) and trisomy 21 (53 cases, 9%) and the most common maternal/obstetrical Indication was previable premature rupture of the membranes (179 cases, 31.5%). Abnormal genetic results were found in 50 of 173 cases (28.9%) with a termination indication of Structural malformation who accepted invaziv genetic testing. The number of terminations with fetal indications performed after 22 weeks were 148 (41%) and 11 (7.4%) cases of these late terminations of pregnancy were anomalies expected to be diagnosed in the first trimester. Complication rates (12.4%) and abdominal termination rates (3.5%) were significantly higher in group 2 than in group 1 (p<0.05). Improvements in prenatal genetic screening and diagnostic techniques will undoubtedly decrease the gestational ages in terminations of pregnancies. However, there will always be cases that can neither be diagnosed earlier nor can be treated due to the nature of the anomaly. In the management of such cases, terminations will always occupy an important place in prenatal care.

Structural violence by state: India’s indirect endorsement towards the three decades-long sex-selective abortion (SSA)

This research aims to contribute to the debate on structural violence by state, by explaining how pro-human rights policies ironically can be produced, implemented, and used by state as instruments to perpetrate human rights violations. By using the concept of structural violence, this research is offered that the Indian government has allowed the practice of female foeticide in India to continue to occur among India's poor women from 1994 to 2014 through the implementation of anti-sex-selective abortion (anti-SSA) policy: Pre-Course Pre-Natal Diagnostic Technique (PCPNDT) Act of 1994. This study attempts to investigate how the Indian government perpetuates structural violence by producing, implementing, and maintaining this provenly ineffective human rights policy by using qualitative method and secondary data. This paper finds that the neglect of intersectionality analysis in the design of the policy is a form of structural violence conducted by the Indian government. In this case Indian government has implemented segmentation and marginalization in order to allow the continuation of female foeticide among its poor women for the last three decades. Generally, the neglect of intersectionality analysis in the policy represents the government’s support towards the high preference of boys and extremely low preference of girls, especially poor girls and girls from the outcast. Although the anti-SSA policy has been in place since 1994, data on sex ratios at birth from 1982 to 2014 show that the gap between the births of girls and boys is becoming more and more imbalanced. Various researchers found that the policy was not effective in resolving the problem of sex ratios due to its poor implementation management that caused difficulties in arresting the perpetrators of SSA and regulating the practice up to the grassroots level. However, this paper argues that poor management is not the main cause the policy is failing. This research finds that the Indian government deliberately excludes &amp; does not recognize the identity of poor &amp; outcast women in the policy design. In fact, the practice of SSA is mostly carried out by women in these segments.

Risk of mother-to-child transmission after amniocentesis in pregnant women with hepatitis B virus: a retrospective cohort study

Amniocentesis is the most widely used invasive prenatal diagnostic sampling technique. However, whether this increases the risk of mother-to-child transmission of infectious diseases remains controversial. This study aimed to determine whether amniocentesis increases the risk of hepatitis B virus infection in infants who received standard prophylaxis, and to assess the related risk factors for mother-to-child transmission in women who underwent amniocentesis during pregnancy. This retrospective analysis used the clinical data of pregnant women with hepatitis B virus infection at West China Second University Hospital, Sichuan University in 2019. After meeting the inclusion criteria, the participants were divided into 2 groups on the basis of whether they had undergone amniocentesis during pregnancy. The infant hepatitis B virus serologic status was followed 1 to 6 months after completion of immunization. The infant testing positive for hepatitis B surface antigen and negative for Hepatitis B surface antibody indicated mother-to-child transmission of hepatitis B virus. In total, 1764 pregnant women with hepatitis B virus infection were enrolled. Of these, 846 underwent amniocentesis during pregnancy and 918 did not. All offspring received a standardized immunoprophylaxis schedule. The overall mother-to-child transmission rate for hepatitis B virus was 0.6% (5/846) in the amniocentesis group and 0.4% (4/918) in the control group (P=.745). Subgroup analysis showed that the mother-to-child transmission rate in hepatitis B e antigen-positive women was 1.8% (2/111) in the amniocentesis group and 1.0% (2/209) in the control group (P=.612). In women with high viral load, the mother-to-child transmission rate was 1.3% (1/78) vs 0.9% (1/107) (amniocentesis group vs control group; P=1.000). In the amniocentesis group, 31 amniotic fluid specimens had an abnormal appearance (bloody or brown). Univariate analysis showed that the mother-to-child transmission rates of these mothers were statistically higher than those of mothers with pale yellow or transparent amniotic fluid (2/31 vs 3/815; relative risk, 17.527 [3.037-101.151]; P=.012). Amniocentesis did not increase the risk of mother-to-child transmission of hepatitis B virus in infants who received a standardized immunoprophylaxis schedule, including those with mothers who were hepatitis B e antigen-positive or had a high viral load. However, the abnormal appearance (bloody or brown) of the amniotic fluid obtained during amniocentesis may indicate increased risk of mother-to-child transmission for hepatitis B virus.

Ten years' experience in prenatal diagnosis of α-thalassemia in a municipal hospital and retrospective analysis of ultrasonic abnormalities.

This study reviewed and analyzed the prenatal diagnosis experience of thalassemia in our center over the past decade and the abnormal ultrasonic characteristics of fetuses with hemoglobin (Hb) Bart's hydrops fetalis. Pregnant women and their partners who tested positive for α0-thalassemia or were diagnosed with thalassemia intermedia (HbH diseases) underwent genetic counseling, and a prenatal diagnostic procedure for α-thalassemia was recommended. Ultrasonography was performed before prenatal diagnosis. Invasive prenatal α-thalassemia diagnosis and ultrasonography were performed in 1049 patients at risk for Hb Bart's hydrops fetalis syndrome at our hospital from 2012 to 2021. Chorionic villus sampling (CVS) was performed in 58 cases (5.5%), amniocentesis in 902 cases (86%), and cordocentesis in 89 cases (8.5%). Hb Bart's hydrops fetalis syndrome was diagnosed in 280 fetuses. The most common body cavity effusion was pericardial effusion, ascites, and fetal systemic edema. The extensive experience at our center shows that carrier screening, molecular diagnostics, genetic counseling, and prenatal diagnosis are effective measures to prevent Hb Bart's hydrops fetalis syndrome. The ultrasonographic abnormalities in fetuses with Hb Bart's hydrops are mainly caused by an increase in cardiac output, which leads to the body cavity effusion from various organs.

A Qualitative Assessment of Clinical Practice Guidelines and Patterns for Congenital Cytomegalovirus in the United States.

Cytomegalovirus (CMV) infection during pregnancy may result in long-term health problems for children with congenital CMV (cCMV). Currently, no prevention or treatment interventions are approved by the Food and Drug Administration for a cCMV indication. Healthcare provider and public awareness is low, and formal clinical practice guidelines and local practice patterns vary. A pilot study of eight cCMV experts was performed using qualitative semi-structured interviews to better understand clinical practice guidelines and patterns in the United States. Results from participant interviews highlighted the need for better prenatal diagnostic techniques, broader neonatal screening opportunities, and more robust evidence supporting intervention strategies. Healthcare provider and public partnerships are essential for advancing cCMV guidelines and improving care delivery. Our results provide a preliminary knowledge base and framework for developing a consensus cCMV research agenda to address evidence gaps that limit the revision of clinical practice guidelines. The changes in clinical practice patterns that may arise as a result of further research have the potential to reduce risk during pregnancy and improve care for children with cCMV infection.

Advanced maternal age

During the last decades, couples in Europe have been delaying parenthood, since 1970. Advanced age of childbearing has been related to socio-demographic factors, such as increased rates of university education and employment in women and poorer financial status.Fertility potential declines with advancing age, especially after the mid-30s, alongside with an increased risk of pregnancy complications. In contrast to men, age has long been recognized as the most significant risk factor for infertility in women. The ovarian reserve diminishes, the hormonal environment is altered and oocyte quality (specifically, chromosomal, morphologic and functional abnormalities) worsens with age. Women of advanced age are more likely to have acquired infections affecting tubal patency and function or suffer from endometriosis, uterine fibroids and endometrial polyps. Deterioration in lifestyle, such as lack of physical exercise also affect female fertility. Management of infertility should start early. Thus, it has been suggested that a woman should seek medical investigation as soon as six months after regular unprotected intercourse without conception, when 35–40 years of age, and immediately, when over 40 years.Advanced maternal age, traditionally defined as over 35 years of age, is a well-recognized risk factor for pregnancy complications, such as miscarriage, ectopic pregnancy, multiple gestation, and intrauterine growth retardation (IUGR).Fetal and neonatal morbidity and mortality are higher as well. Since the rate of chromosomal and gene abnormalities as well as congenital mal- formations is high in offspring of women of advanced age, prenatal diagnostic procedures should be encouraged.Both maternal and paternal advanced age has been associated with various conditions and diseases in the offspring. A recent, large, population study demonstrated that offspring born to mothers younger than 25 or older than 35 years of age have worse outcomes,.In case of pregnancy, both paternal and maternal advanced age are associated to pregnancy complications during early and late pregnancy, as well as to long-term offspring health, by affecting immune, neuro-developmental, psychological and cognitive parameters. Thus, all adults of reproductive age should receive counseling on the risks of advanced maternal age, so they can make informed decisions about the timing of childbearing.

The Pre-Natal Diagnostic Techniques as a Roadblock to Gender Equality: A Critical Study

The Pre-Natal Diagnostic Techniques as a Roadblock to Gender Equality: A Critical Study

Hemihydranencephaly of Premature Infant - Case Report

Abstract Hydranencephaly represents a rare anomaly of the central nervous system and is characterized by the parenchymal absence which is replaced with a membranous sac filled with cerebrospinal liquid, glial tissue and ependyma. When it is manifested as hemihydranencephaly, the patient’s prognosis is better. We presented a case of a premature infant with hemihydranencephaly in twin pregnancy that had a fatal outcome. A premature infant in a controlled pregnancy was delivered at 31 weeks of gestational age. The mother of the newborn was hospitalized in the Clinic for Infective Diseases since she had tested positive for SARS-Covid- 19. Following an urgent Caesarean section, the newborn was tested for Covid 19 using the rapid antigen and PCR test and the results were negative. In the delivery room, the tactile stimulation, aspiration, positive pressure ventilation of the infant were applied, after which it was intubated. After the intubation, a manual heart massage was performed, after which the cardiac activity and agonal breathing movements were detected.” Three hours later, cardiorespiratory arrest happened, following unsuccessful resuscitation. The other twin was born with no anomalies, but showed signs of respiratory distress syndrome. Autopsy revealed that there was a thin-walled cavity filled with clear, yellowish liquid in the right hemisphere. Documenting cases of newborns with hydranencephaly is of a great importance for counseling parents regarding length of survival, successful management of pregnancy, and performance of prenatal diagnostic procedures.

Prenatal Diagnosis of Retinoblastomas: A Scoping Review.

The objective of this review is to explore the prenatal diagnosis of retinoblastoma and the recommended screening practices. An electronic literature search on prenatal diagnosis of retinoblastoma was conducted on the PubMed database. Publications within the last 20 years that matched the inclusion criteria were selected. The literature search included the following keywords: retinoblastoma, prenatal, diagnosis, screening, and associated synonyms to increase search sensitivity. Nine studies were included for investigation and extracted to identify prenatal diagnostic and screening techniques for retinoblastoma, their associated impact, and the target population that should receive prenatal screening for retinoblastoma. Familial retinoblastoma has an autosomal inheritance pattern and 90% penetrance. Therefore, future parents with a family history of retinoblastoma are strongly advised to get tested for retinoblastoma (Rb) gene mutations; if one of the parents is positive for a mutated allele of the RB1 gene, there is a 45% chance that their child will inherit a mutated allele of the retinoblastoma gene, rendering the allele non-functional in all of the cells of the individual and predisposing the child to a higher risk of developing retinoblastoma as well as other secondary cancers. Thus, prenatal screening and diagnosis of retinoblastoma is crucial for early diagnosis and optimal treatment. Prenatal testing for retinoblastoma in high-risk families is important for everyone in the family. For the parents, prenatal screening has been shown to improve their family planning decisions and psychological well-being as they can mentally prepare beforehand and make informed decisions. More importantly, these practices have shown to yield better treatment and vision outcomes in the newborn.

The Reduced Use of Invasive Procedures Leads to a Change of Frequencies of Prenatally Detected Chromosomal Aberrations: Population Data From the Years 2012–2016

ABSTRACT Prenatal chromosomal aberration screening mainly focuses on the identification of the autosomal trisomy of chromosomes 21, 18, and 13 (Down syndrome, Edwards syndrome, and Patau syndrome, respectively). This screening may be often combined with other first-semester screenings to promote earlier detection of other pregnancy complications, including chromosomal aberrations. In the Czech Republic, there is no unified policy for prenatal screening. The main prenatal diagnostic centers provide combined prenatal screening in the first semester, whereas some conduct biochemical screening in the second trimester. Those with positive screening results or abnormal ultrasound are offered invasive diagnostic procedures, such as chorionic villus sampling (CVS) or amniocentesis, along with additional genetic testing. Whereas the number of amniocenteses has declined, the number of CVS is increasing. The aim of this study was to examine the results of chromosomal aberrations screening in a population with a high rate of first-trimester screening and low rate of noninvasive prenatal testing. This was a population-based study, using data from the National Registry of Congenital Anomalies of the Czech Republic from 2012 to 2016. Included were all cases of prenatally diagnosed chromosomal aberrations. The proportions of the autosomal trisomies and other chromosomal aberrations were calculated and compared. The denominator was the number of live births per year. A total of 3009 prenatally diagnosed cases of chromosomal aberrations were identified during the study period. The most common aberrations were the major autosomal trisomies (1885 cases [62.6%]). The number of invasive prenatal diagnostic procedures decreased from 11,517 cases (1099.54 per 10,000) to 7042 cases (622.73 per 10,000) during the study period. From 2012 to 2016, the number of prenatally diagnosed major autosomal trisomies increased (329 cases [30.86 per 10,000] vs 423 cases [37.41 per 10,000], respectively; Poisson regression: P = 0.014), and the number of other aberrations decreased (246 cases [23.07 per 10,000] vs 217 cases [19.19 per 10,000], respectively; Poisson regression: P = 0.017). There was a highly statistically significant increase of 57.22% in 2012 to 66.09% in 2016 in the rate of the major autosomal trisomies group (logistic regression: P &lt; 0.001). The study found that, during a 5-year period, when invasive prenatal diagnostic procedures declined, there was also a decrease in the number of nonmajor chromosomal aberrations. Noninvasive prenatal testing was not shown to impact these data.

Legal Limits Relaxed: Time to Look at Other Barriers Faced by Women Seeking Termination of Pregnancy for Fetal Anomalies.

Introduction Advancements in prenatal diagnostic techniques have led to an increase in demand for termination of pregnancy for fetal anomalies (TOPFA). While relaxation in the legal gestational age limits across various countries relieves an important barrier, there is a need to identify the reasons that lead to delays in seeking abortion for fetal anomalies, because abortion-related complications increase with gestational age. Methods In this hospital-based qualitative study, antenatal women referred to a tertiary care institute in North India because of major fetal anomalieswere explained about the study. Those women who fulfilled the inclusion criteria were recruited after taking consent. Details of antenatal care and prenatal tests were recorded. An in-depth inquiry was made into the reasons for the delay in prenatal tests, the delay in the decision for abortion, and specific problems that they faced in seeking TOPFA. Results Out of 80 women who met the inclusion criteria and consented to participate, more than 75%had received antenatal care in public healthcare facilities. Less than 50% of women received folic acid in the first trimester while 26% had first contact with healthcare facilities in the second trimester. Only 21 women underwent screening for common aneuploidies. Second-trimester anomaly scan was delayed in 35 women due to women-centered reasons (n = 17) or provider-centered (n = 19) reasons. Only 37.5% of women were counseled about fetal anomalies by their primary care provider. Owing to delay at multiple levels, 40 women (50%) could receive counseling about fetal abnormality for the first time after 20 weeks. These women could not be offered abortion because this study was carried out before theamendments in the Medical Termination of Pregnancy Act in India. The older act allowed abortion up to 20 weeks of gestation. Seventeen women could obtain permission for an abortion from a court of law. Arrangements for travel and stayand dependence on family members were the main problems faced by women seeking TOPFA. Conclusions Delay in diagnosis of a fetal anomaly due to delay in seeking antenatal care, irregular follow-up, and lack of pre-test counseling are the major reasons for the delay in the decision for abortion. This is further compounded by inadequate post-test counseling. Lack of awareness, failure or delay in counseling, need to travel to another facility for abortion, dependence on family members, and financial issues are the major barriers.