Prenatal Determination Research Articles

Situation of Gender-Biased Sex Selection in Nepal

About 140 million women are believed to be "missing" around the world due to the result of son preference. Gender-biased sex selection (GBSS) in favor of sons is a manifestation of gender inequality that is deeply embedded in our society by tradition, culture, religion, social, economic and legal injustices that undervalue girls and women. This paper tries to discuss on the gender-biased sex selection (GBSS) in favor of sons. Similarly, the study is based on descriptive as well as analytical research design. The sources of information have been based on secondary data. The facts and figures have been presented into tabular form. Several districts showed significantly skewed sex ratio at birth (SRBs) at 110 or above with Kaski, Arghakhanchi and Bhaktapur, province one and Lumbini province having the highest SRBs in Nepal. Youngest age groups at the bottom under 30 years of 5year age groups of female population are low in 2021 census. The Nepali context makes pervasive use of sex-selection likely as strong son preference. Sons are seen as economic, social and religious assets and in some parts of the country while females are seen as a burden due to the expenses involved in marriage. Fertility decline means that couples feel pressure to bear a son at a low parity. The technology of sex-selective abortion is accessible to the Nepalis. Even though prenatal sex determination and abortion based on sex selection are prohibited and may incur severe penalties in Nepal under the current abortion law passed in 2002. Nepal provides abortion was legalized in 2002 and prior to that, there was no evidence of sex-selective abortion. SSA was made a punishable offence when exceptions for legal abortion were introduced by the eleventh amendment to the Nepal’s Muluki Ain in 2002. Consequences of the ‘missing females’ become long term demographic impact and also result in ‘excess males’ who struggle to marry in society.

The Research on Prisoners Dilemma in Prenatal Sex Determination

Inequality in the sex ratio is a significant issue in China. Some illegal sex determination mechanisms that give parents of young children gender information significantly contribute to the sex ratio imbalance. As a result, some parents make prejudiced decisions to abort girls. Regulation of prenatal sex determination by governmental and medical institutions will be challenging due to the high degree of information asymmetry. A few of the governments initiatives have yet to show obvious results. Medical institutions and women of childbearing age automatically cooperate in spite of information asymmetry. The prenatal sex determination regulation model is given a new interpretation in this paper using the game theory analysis method. Additionally, the paper explains the causes of the regulations difficulty and proposes ideas, countermeasures, and solutions. The idea of cooperation contained in game theory is of great significance in resolving interest conflicts and achieving social harmony under the condition of interest differentiation.

Inconclusive prenatal sex determination in an NIPT due to probable confined placental mosaicism and the importance of amniocentesis

Non-invasive prenatal diagnosis in maternal blood from placental has become the first-line test for the early detection of chromosomal aneuploidies. Amniocentesis remains the gold standard for the accurate diagnosis of any chromosomal aneuploidy. However, sometimes noninvasive prenatal tests can report inconclusive results which presents a dilemma for decision making. We report a case where fetal sex was inconclusive and confirmation by amniocentesis was performed on a couple.

Prenatal gender selection: medical, ethical and psychological aspects

The aim: to summarize the methodology of prenatal gender selection and the ethical aspects of its implementation.
 Materials and methods: the authors conducted the review in the database of scientific periodicals PubMed.
 Results: based on scientific publications, the principal techniques to determine sex in the pre-implantation period, in the embryo and fetus, are presented. Invasive and non-invasive procedures of prenatal diagnosis are described. Invasive procedures include examination of the fetus by chorionic villus sampling karyotyping of cells obtained by amniocentesis. Non-invasive techniques related to pregnant women's blood biochemistry and ultrasound markers of Down syndrome are given. Fetal blood DNA testing is a more sensitive diagnostic parameter that reduces the indication for invasive procedures. The newest and most effective method of sex determination in the pre-implantation period is sperm separation screening. Medical and non-medical reasons for prenatal gender determination, such as prevention of X-linked genetic disorders in a child, a couple's choice to balance the sex of children in the family and social gender preferences are shown. Gender selection for the prevention of X-linked disorders is justified. Ethical issues regarding the balance of children in the family, giving preference to certain sex with the help of advanced diagnostic techniques, and selective abortion are discussed. The bioethical principles for preventing selective abortion resulting from gender reasons are established.
 Conclusion: for preventing prenatal gender discrimination is highlighted more strongly by the need legal regulation and the ethical control of scientific technologies in reproductive medicine.

Prenatal gender selection: medical, ethical and psychological aspects

The article is devoted to the methodology of prenatal gender selection and ethical aspects of its implementation. Based on the analysis of scientific publications, the principal techniques to determine sex in pre-implantation period, in the embryo and fetus, are presented. Invasive and non-invasive procedures of prenatal diagnosis are descreibed. Invasive procedures include examination of the fetus by chorionic villus sampling karyotyping of cells obtained by amniocentesis. Non-invasive techniques related to pregnant women's blood biochemistry, ultrasound markers of the Down syndrome are given. Fetal blood DNA testing is a more sensitive diagnostic parameter that reduces the indication for invasive procedures. The newest most effective method of sex determination in pre-implantation period is sperm separation screening. Medical and non-medical reasons for prenatal gender determination such as prevention of X-linked genetic disorders in a child, a couple’s choice in order to balance sex of children in the family, social gender preferences are shown. Gender selection for the prevention of the X-linked disorders is justified. Ethical issues regarding to the balance of children in the family, giving preference to a certain sex with the help of advanced diagnostic techniques, and selective abortion are discussed. The bioethical principles for the prevention selective abortion resulted from the gender reasons are established. International documents – the Convention for the Protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology and Medicine, the Declaration of the World Medical Association regulating protection against sexual discrimination are considered

DETECTION OF Y-CHROMOSOME MARKER IN PLASMA OF PREGNANT WOMEN USING REAL TIME PCR: DIAGNOSTIC ACCURACY DEPENDING ON GESTATION AGE

The evaluation of the clinical significance of the test for the detection of the Y-chromosome marker in the plasma of a pregnant woman at different stages of pregnancy by real-time PCR was carried out. The blood samples of 4616 women at 4 to 32 gestation weeks were studied. Identification of the Y-chromosome marker was carried out based on the amplification of a region of the TSPY gene. The Y-chromosome marker was unambiguously identified in 2131 samples, which accounted for 46.2% of the total number of analyzed samples. In 233 samples (5%), the Y-chromosome marker was detected with reduced reliability, and in 15 samples (0.3%), an unambiguous conclusion about the presence or absence of Y-specific DNA in plasma could not be made during the initial study. The diagnostic accuracy of the Y-chromosome marker determination in the plasma of a pregnant woman at the 4-6th gestation week was 95.5%, and from the 7th week and at later stages of pregnancy it reached 97.3-98.2%. Testing from the 7th gestation week may be recommended for reliable prenatal sex determination of the fetus by real-time PCR analysis of extracellular circulating fetal DNA.

Accuracy of Mid-Trimester Ultrasound Scan in Foetal Gender Determination at the University College Hospital, Ibadan Nigeria

Objectives: This study aimed to determine the accuracy of prenatal sonographic gender determination during foetal anomaly ultrasound and the overall sensitivity pattern in our institution.
 Materials and Methods: A cross-sectional study of 520 consenting pregnant women who presented for foetal anomaly scans within a one-year period in our institution. The diagnostic accuracy of gender determination during the anomaly and delayed scans were determined by comparing the sonographic gender with the birth gender and calculating sensitivity, specificity, positive predictive value and negative predictive value. Data were analyzed using the Statistical Package for Social Sciences (SPSS) version 20. Descriptive statistics, frequencies, Mc-Nemar chi-square test were used at 5% level of significance.
 Results: The mean maternal age was 31.51 ±5.02years. Of the 520 consenting pregnant women studied, 16(6.0%) women were having twin gestation. Four hundred and ninety-seven (92.7%) genders were determined during foetal anomaly scan. The accuracy of the ultrasonography (US) examination performed by the resident doctors was 98.02% while the accuracy of the scan performed by the consultant radiologists was 100%. Overall, the accuracy of the gender determination on ultrasound was 98.69%. The general specificity and sensitivity of the US were 98.71 % and 98.68% respectively while the positive and negative predictive value were 99.01 % and 98.29% respectively.
 Conclusion: The accuracy of ultrasound examination in detecting foetal gender during foetal anomaly ultrasound is high with equally high predictive values and therefore it is recommended as a mandatory variable during anomaly scans. There is need for continuous training of resident doctors or operators in lower cadre to improve their competency in foetal gender determination.

Accuracy of Mid-Trimester Ultrasound Scan in Foetal Gender Determination at the University College Hospital, Ibadan Nigeria

Objectives: This study aimed to determine the accuracy of prenatal sonographic gender determination during foetal anomaly ultrasound and the overall sensitivity pattern in our institution.
 Materials and Methods: A cross-sectional study of 520 consenting pregnant women who presented for foetal anomaly scans within a one-year period in our institution. The diagnostic accuracy of gender determination during the anomaly and delayed scans were determined by comparing the sonographic gender with the birth gender and calculating sensitivity, specificity, positive predictive value and negative predictive value. Data were analyzed using the Statistical Package for Social Sciences (SPSS) version 20. Descriptive statistics, frequencies, Mc-Nemar chi-square test were used at 5% level of significance.
 Results: The mean maternal age was 31.51 ±5.02years. Of the 520 consenting pregnant women studied, 16(6.0%) women were having twin gestation. Four hundred and ninety-seven (92.7%) genders were determined during foetal anomaly scan. The accuracy of the ultrasonography (US) examination performed by the resident doctors was 98.02% while the accuracy of the scan performed by the consultant radiologists was 100%. Overall, the accuracy of the gender determination on ultrasound was 98.69%. The general specificity and sensitivity of the US were 98.71 % and 98.68% respectively while the positive and negative predictive value were 99.01 % and 98.29% respectively.
 Conclusion: The accuracy of ultrasound examination in detecting foetal gender during foetal anomaly ultrasound is high with equally high predictive values and therefore it is recommended as a mandatory variable during anomaly scans. There is need for continuous training of resident doctors or operators in lower cadre to improve their competency in foetal gender determination.

Very early prenatal diagnosis of Cockayne’s syndrome by coelocentesis

Cockayne’s syndrome (CS) is a rare autosomal recessive multisystem disease characterised by early severe progression of symptoms. This study reports the feasibility of earlier prenatal diagnosis of CS by coelocentesis at 8 weeks of gestation respect to amniocentesis or villocentesis. Three couples at risk for CS asked to perform prenatal diagnosis by coelocentesis. Coelomic fluid was aspired from coelomic cavity in four singleton pregnancy at 8 weeks of gestation and 40 foetal cells were recovered by micromanipulator. Maternal DNA contamination was evaluated by quantitative fluorescent PCR (QF-PCR) and target regions of foetal DNA containing parental mutations of ERCC6 gene were amplified and sequenced. In all these cases, molecular analysis was possible. One foetus resulted affected of CS and the diagnosis was confirmed on placental tissue after voluntary abortion. In three cases, foetuses resulted carrier of a parental mutation and the results were confirmed after the birth. This study suggests that reliable prenatal diagnosis of CS could be performed using foetal cells present in coelomatic fluid in earlier pregnancy. Coelocentesis could be applied in prenatal diagnosis of CSs as well as for other monogenic diseases, at very early stage of pregnancy, if parental mutations are already known. Impact Statement What is already know on this subject? Previous studies utilising coelocentesis for prenatal determination of foetal sex reported variable success ranging from 58% to 95%, because of low total DNA content and presence of maternal cell contamination. This procedure has never been reported for early prenatal diagnosis at 8 weeks of gestation for rare genetically transmitted diseases such as Cockayne’s syndrome. What do the results of this study add? This study demonstrates that coelomic fluid sampling combined with well-standardised laboratory procedures can be applied for prenatal diagnosis at eight weeks of gestation for any rare monogenic disease if molecular defects are known. What are the implications of these findings for clinical practice and/or further research? The findings of this study in at risk couples for monogenic diseases investigated by coelocentesis demonstrate that embryo-foetal cell selection from CF allows reliable and early prenatal diagnosis of diseases. This technique is attractive to parents because it provides prenatal diagnosis of genetic disease at least 4 weeks earlier than what can be achieved by the traditional procedures reducing anxiety of parents and provides the option for medical termination of affected cases at 8–10 weeks’ gestation, which is less traumatic and safer than second-trimester surgical termination. Further research concerns the possibility to obtain foetal karyotype at eight weeks of gestation and the possibility of intrauterine corrective therapy.

Population control bill of Uttar Pradesh (two-child norm): An answer to population explosion or birth of a new social problem?

Recently, the Government of Uttar Pradesh (UP) unveiled a draft bill of the UP Population Policy (2021-2030) on World Population Day to bring down the gross fertility rate and stabilization of the population. The history of the two-child norm in India has shown that different state governments had tried to implement it at different timelines during the past 20 years. Global evidence suggests that Vietnam and Bangladesh have stabilized their population and control birth rate despite not having two-child policies. Moreover, sex-selective abortion, preference for male children, denying the paternity of female children, pre-natal sex determination, and violence against women for giving birth to girl children will be on rise. Female literacy, empowerment, and addressing unmet needs of contraceptives are the time-tested solutions for population control rather than raising a new social problem with a "two-child policy" bill/act.

Nanoparticle-Enhanced Surface Plasmon Resonance Imaging Enables the Ultrasensitive Detection of Non-Amplified Cell-Free Fetal DNA for Non-Invasive Prenatal Testing

Although many potential applications in early clinical diagnosis have been proposed, the use of a surface plasmon resonance imaging (SPRI) technique for non-invasive prenatal diagnostic approaches based on maternal blood analysis is confined. Here, we report a nanoparticle-enhanced SPRI strategy for a non-invasive prenatal fetal sex determination based on the detection of a Y-chromosome specific sequence (single-gene SRY) in cell-free fetal DNA from maternal plasma. The SPR assay proposed here allows for detection of male DNA in mixtures of 2.5 aM male and female genomic DNAs with no preliminary amplification of the DNA target sequence, thus establishing an analytical protocol that does not require costly, time-consuming, and prone to sample contamination PCR-based procedures. Afterward, the developed protocol was successfully applied to reveal male cell-free fetal DNA in the plasma of pregnant women at different gestational ages, including early gestational ages. This approach would pave the way for the establishment of faster and cost-effective non-invasive prenatal testing.

The Potential Usefulness of Free Fetal DNA for Prenatal Fetal Gender Determination in Blood Plasma of Pregnant Goat

The Potential Usefulness of Free Fetal DNA for Prenatal Fetal Gender Determination in Blood Plasma of Pregnant Goat

Global estimation and scenario-based projections of sex ratio at birth and missing female births using a Bayesian hierarchical time series mixture model

The sex ratio at birth (SRB) is defined as the ratio of male to female live births. The SRB imbalance in parts of the world over the past several decades is a direct consequence of sex-selective abortion, driven by the co-existence of son preference, readily available technology of prenatal sex determination, and fertility decline. Estimation and projection of the degree of SRB imbalance is complicated because of variability in SRB reference levels and because of the uncertainty associated with SRB observations. We develop Bayesian hierarchical time series mixture models for SRB estimation and scenario-based projections for all countries from 1950 to 2100. We model the SRB regional and national reference levels, and the fluctuation around national reference levels. We identify countries at risk of SRB imbalances and model both (i) the absence or presence of sex ratio transitions in such countries and, if present, (ii) the transition process. The transition model of SRB imbalance captures three stages (increase, stagnation and convergence back to SRB baselines). The model identifies countries with statistical evidence of SRB inflation in a fully Bayesian approach. The scenario-based SRB projections are based on the sex ratio transition model with varying assumptions regarding the occurrence of a sex ratio transition in at-risk countries. Projections are used to quantify the future burden of missing female births due to sex-selective abortions under different scenarios.

Evaluation of the results of patients who applied to the Çukurova University, Medical Genetics Department for prenatal diagnosis and determination of genetic counseling principles

Background/aim The aim of this study was to summarize the experiences of a single medical center for genetic diagnosis and treatment of prenatal patients.Materials and methods This study includes a retrospective data analysis of 2843 prenatally investigated cases using invasive methods during a 6-year period (2013–2019) at a single tertiary care center.Results Chromosomal abnormalities were detected in 80 out of 1221 amniotic fluid samples;,178 out of 1608 chorionic villus samples, and 1 out of 14 cordocentesis samples. The most common chromosomal abnormality was trisomy 21. At least one mutation was detected in 63 of the 152 molecular tests performed on fetuses. Conclusion Clinical procedures such as ultrasounds and genetic tests are able to provide a better clinical follow-up for pregnant women about the possible congenital anomalies or any genetic condition, with proper genetic counseling and testing methodology.

A STUDY OF ATTITUDE, AWARENESS AND PRACTICE ON FEMALE FETICIDE OF PREGNANT WOMEN IN BIKANER OF RAJASTHAN

Background: Female feticide has been a big social problem in all the states of India. There is a male child preference by pregnant women including their family members. Thus this study aimed to assess attitude and awareness on female feticide.
 Methods: The present study was conducted in ANC center of Medical college Hospital, Bikaner of Rajasthan in 500 pregnant women (250 rural and 250 Urban) .
 Results: Out of 500 pregnant women 62% had shown no gender preference, 23% preferred male child and 15% had preferred to have female child. Regarding awareness, 88% and 90% women knew that prenatal sex determination and female feticide are illegal respectively.
 Conclusions: Being the civilized citizens, it is our duty to raise voice against the declining sex ratio and killing of girl child. Being a woman it is our primary duty as well as concern to come forward to stop this menace.
 Keywords: Female feticide, Attitude, Awareness, Practice, Pregnant women

Diagnostic performance of the noninvasive prenatal FetoGnost RhD assay for the prediction of the fetal RhD blood group status

PurposeTo evaluate the diagnostic accuracy of a commercially available test kit for noninvasive prenatal determination of the fetal RhD status (NIPT-RhD) with a focus on early gestation and multiple pregnancies.MethodsThe FetoGnost RhD assay (Ingenetix, Vienna, Austria) is routinely applied for clinical decision making either in woman with anti-D alloimmunization or to target the application of routine antenatal anti-D prophylaxis (RAADP) to women with a RhD positive fetus. Based on existing data in the laboratory information system the newborn’s serological RhD status was compared with NIPT RhD results.ResultsSince 2009 NIPT RhD was performed in 2968 pregnant women between weeks 5 + 6 and 40 + 0 of gestation (median 12 + 6) and conclusive results were obtained in 2888 (97.30%) cases. Diagnostic accuracy was calculated from those 2244 (77.70%) cases with the newborn’s serological RhD status reported. The sensitivity of the FetoGnost RhD assay was 99.93% (95% CI 99.61–99.99%) and the specificity was 99.61% (95% CI 98.86–99.87%). No false-positive or false-negative NIPT RhD result was observed in 203 multiple pregnancies.ConclusionNIPT RhD results are reliable when obtained with FetoGnost RhD assay. Targeted routine anti-D-prophylaxis can start as early as 11 + 0 weeks of gestation in singleton and multiple pregnancies.

The list experiment: An approach to measuring stigmatized behaviours related to sex-selective abortion

Vietnam reports one of the highest levels of abortion globally and an increasingly skewed sex ratio at birth. Abortion and related stigmatized behaviours are notoriously difficult to measure, yet understanding women’s ability and willingness to engage in sex selection is of interest to demographers and policymakers alike. We piloted the list experiment, an indirect questioning method, to estimate the prevalence of prenatal sex determination and sex-selective abortion. Respondents reported the total number of items they had engaged in from a list, reducing non-response and incentives to under-report. Among 900 women sampled at two hospitals in Hanoi, we estimated a high prevalence of prenatal sex determination. We found a low prevalence of sex-selective abortion, but higher prevalence among specific parity and children’s sex composition subgroups. Responses to knowledge and attitudinal questions underscored women’s perceived stigma around sex-selective abortion, suggesting the list experiment is a potentially useful tool for studying son preference.

Preference on prenatal sex determination and its associated factors among currently married women of reproductive age group in Puducherry, India.

Sex determination refers to knowing the sex of foetus during prenatal period for non-medical reasons. Attitude of married women to sex determination is important to improve the sex ratio at birth. This study aimed to assess preference on sex determination and associated factors among currently married reproductive age group women. This cross-sectional community-based study was done during 2016-2017 among 2228 currently married women of 18-49 years' age group in urban and rural Puducherry, India. Information on the demographic characteristics, level of awareness and preference for sex determination was obtained. Multiple logistic regression was used to identify factors influencing preference for sex determination. Unadjusted and adjusted odds ratio (AOR) as a measure of effects was used. Of 1979 respondents, all were aware that sex determination is possible. Majority of them did not prefer sex determination (95.4%, 1888). About 80 (4.0%) preferred, while 11 (0.6%) were undecided about it. Majority of them were aware that sex determination without medical indication is a crime. Common source of information was healthcare workers (76.4%). After adjusting for confounders, age group (18-24, AOR = 5.334; 25-29, AOR = 3.249; 30-34, AOR = 3.857; 35-39, AOR = 2.279), middle level education (AOR = 2.3), those with unmet need for family planning (AOR = 2.970) and urban area (AOR = 67.679) subjects were preferred more; housewife (AOR = 0.481) and those without living son (AOR = 0.406) had preferred lesser for sex determination compared to their counterparts. About one in 25 currently married women preferred sex determination. It is comparatively more in urban areas. High-risk groups should be educated to develop correct awareness and attitude on prenatal sex determination.

Effect of fetal sex on maternal total testosterone level

ObjectiveTo study the effect of fetal sex on maternal serum total testosterone level and its application for fetal sex determination.BackgroundOur study has been made to find a prenatal sex determination test that is rapid, accurate, and can be performed in early pregnancy.Patients and methodsThis study was done on 66 pregnant healthy women (aged 18–35 years) in their second trimester of pregnancy (13–26 gestational weeks) as a case group and another 20 healthy nonpregnant women, age-matched as a control group. Those cases with a history of drug intake, chronic diseases, and history of previous operations were excluded. Both groups were subjected to measurement of total testosterone levels. The pregnant women were rechecked after delivery to know the delivered baby's sex. After excluding five cases from the pregnant group, including three cases (abortion) and two cases (still birth) the final number of the case group was 61; after that the pregnant group was classified into two subgroups: pregnant with male (30) and pregnant with female (31).ResultsThe maternal serum total testosterone level is significantly higher in the pregnant group compared with the nonpregnant control group. Regarding maternal testosterone in women carrying female fetus and others carrying male fetus, there was no statistically significant difference regarding the maternal total testosterone level between those who are pregnant in women compared with those who are carrying male fetus.ConclusionMaternal serum total testosterone level is not a good predictor of fetal sex.

Gender determination and gender gap: A cross sectional comparative study of mothers attending under five immunisation clinics in urban and rural areas.

Background:Sex ratio is an important sociodemographic characteristic of the country reflecting the status of its women and underlying socioeconomic and cultural patterns. PC-PNDT law is in place since so many years still sex determination is prevalent. Here not only doctors but the parents are also equally responsible for propagating this social evil as most of them are unaware about the Act and its legal implications and consequences of the declining sex ratio.Methods:Study was conducted over a period of 24 months from December 2018 to November 2018 in Immunisation OPD of a tertiary health care centre and a primary health centre with a sample size of 117 in both areas. Simple Random sampling method was used and analysis was done using SPSS software.Results:Out of 234 mothers approximately 70% were aware that pre-natal sex determination can be done. About 40% were aware that it is illegal, 30% said that ultrasonography is used for doing it, 20% said that both doctor and parents are punished under this act. Only 5% were aware about the correct punishment under this Act. Awareness regarding the place, method, legality and punishment was more among mothers of urban area as compared to rural area. Education and socioeconomic status was associated with awareness.Conclusion:Creating awareness in the general public and specifically mothers regarding the Act and consequences of its violation. Comprehensive behavioural change communication activities can be done through mass media for educating the people regarding the effect of declining sex ratio.