How does a ban on sex-selective abortions affect child health?

Bans on sex-selective abortions are typically implemented to make sex ratios more equitable, but they may have adverse effects on surviving children. We examine the impacts of a ban on prenatal sex selection in India on postnatal health outcomes. We first show that the ban increased the share of female children born to mothers, especially among firstborn female families. Strikingly, we also find that the ban led to a worsening of mortality outcomes for both girls and boys in firstborn female families. In terms of mechanisms, we find that fertility increases in firstborn female families after the ban, pointing to the following channel: firstborn female families are disproportionately affected by the ban and are more likely to use the son-biased fertility stopping rule to achieve a desired number of sons. Children in firstborn female families likely face greater competition for parental resources, which may worsen their health.

Attitudes and Practices Toward Sex-Selective Abortion in an Urban District of Nepal: Findings From a Cross-Sectional Study.

Nepal, a country with deeply ingrained patriarchal values and culture, has limited evidence regarding the practices of sex selection and sex-selective abortion. This study aimed to investigate the attitudes and practices surrounding sex-selective abortion (SSA) and the factors associated with it. A cross-sectional study design was used to collect data from 320 women between the ages of 15 and 49, who had at least one child under the age of 5 and lived in the Bhaktapur district, Nepal. A total of 19.7% of the participants had undergone an abortion, with 39.6% of those being SSAs. Factors like women empowerment and preference for smaller family size are associated with women's favorable attitude toward SSA. In multivariate analysis, women who faced pressure from their families to have a son and those who were aware of Nepal's abortion laws were more likely to abort a female fetus.

El aborto eugenésico: entre el diagnóstico prenatal y el consentimiento desinformado / Eugenic abortion: between prenatal diagnosis and uninformed consent

El denominado aborto “eugenésico” tiene un extraordinario matiz diferencial frente a las otras moda lidades de aborto legalmente establecidas, que se concreta en el modo en que llega a formarse la decisión de la mujer, que no es previa, sino consecuencia de una información médica recibida sobre el feto; decisión, además, en la que late una clara componente ‘discriminatoria’, puesto que el aborto se produce exclusiva mente por la discapacidad del feto. Esa singularidad exige prestar atención al contexto en que se plantean las decisiones eugenésicas, porque en ellas inciden tres elementos fundamentales que, según se planteen, pueden conducir o no al aborto: en primer lugar, la oportunidad de realizar determinadas pruebas pre natales sin existir factores de riesgo. En segundo lugar, la enorme responsabilidad de los profesionales sanitarios a la hora de informar a los padres sobre el resultado de una prueba prenatal. En tercer lugar, el punto de vista de los futuros padres, que deberían evitar una concepción eugenésica de la paternidad/ maternidad, siendo conscientes de que lo que se está desarrollando en el útero de la mujer es su hijo o hija, no un embrión genérico afectado por anomalías; y que un hijo o hija es una realidad personal, más allá de sus capacidades. El artículo aborda estas tres cuestiones, que convierten al aborto eugenésico en una práctica discriminatoria y evitable, puesto que no se trata de impedir la decisión abortiva de la mujer, sino de refrendar su decisión primaria de continuar con el embarazo a partir de una visión positiva y no eugenésica de la discapacidad (AU)

The so-called “eugenic” abortion has an extraordinary differential nuance compared to the other le gally established modalities of abortion, which is specified in the way the woman’s decision is formed, which is not prior, but a consequence of medical information received about the foetus; a decision, more over, in which there is a clear “discriminatory” component, since the abortion is produced exclusively because of the disability of the foetus. This uniqueness requires attention to the context in which eugenic decisions are made, because they involve three fundamental elements which, depending on how they are made, may or may not lead to abortion: firstly, the opportunity to carry out certain prenatal tests in the absence of risk factors. Secondly, the enormous responsibility of health professionals in informing parents about the results of a prenatal test. Thirdly, the point of view of future parents, who should avoid a eu genic conception of parenthood, being aware that what is developing in the woman’s womb is their son or daughter, not a generic embryo affected by anomalies; and that a son or daughter is a personal reality, beyond his o her capabilities. The paper addresses these three issues, which make eugenic abortion a dis criminatory and avoidable practice, since the aim is not to prevent the woman’s decision to abort, but to endorse her primary decision to continue with the pregnancy on the basis of a positive, non-eugenic view of disability (AU)

[Eugenic abortion: Between prenatal diagnosis and uninformed consent]. / El aborto eugenésico: entre el diagnóstico prenatal y el consentimiento desinformado.

The so-called ″eugenic″ abortion has an extraordinary differential nuance compared to the other legally established modalities of abortion, which is specified in the way the woman's decision is formed, which is not prior, but a consequence of medical information received about the foetus; a decision, moreover, in which there is a clear ″discriminatory″ component, since the abortion is produced exclusively because of the disability of the foetus. This uniqueness requires attention to the context in which eugenic decisions are made, because they involve three fundamental elements which, depending on how they are made, may or may not lead to abortion: firstly, the opportunity to carry out certain prenatal tests in the absence of risk factors. Secondly, the enormous responsibility of health professionals in informing parents about the results of a prenatal test. Thirdly, the point of view of future parents, who should avoid a eugenic conception of parenthood, being aware that what is developing in the woman's womb is their son or daughter, not a generic embryo affected by anomalies; and that a son or daughter is a personal reality,beyond his o her capabilities. The paper addresses these three issues, which make eugenic abortion a discriminatory and avoidable practice, since the aim is not to prevent the woman's decision to abort, but to endorse her primary decision to continue with the pregnancy on the basis of a positive, non-eugenic view of disability.

Saúde mental e abortamento voluntário na audiência pública da ADPF442/STF / Mental health and voluntary abortion in the public hearing of ADPF442/STF / Salud mental y aborto voluntario en la audiencia pública del ADPF442/STF

O estudo teve como objetivo identificar os argumentos da estratégia de persuasão dos discursos apresentados na audiência pública sobre a Arguição de Descumprimento de Preceito Fundamental-ADPF 442, realizada em 2018, cujo propósito era discutir sobre a interrupção voluntária da gravidez até a 12ª semana. Para tal, foi realizada uma pesquisa de abordagem qualitativa, analítico-descritiva e documental. O objeto de análise foi o registro da audiência, apresentado em vídeo, disponibilizado na plataforma digital YouTube, e em ata lavrada pelo STF, ambos de acesso público. A partir de uma análise do discurso, identificou-se os argumentos utilizados na estratégia de persuasão, que foram sistematizados em quatro categorias de argumentos para cada um dos dois grupos identificados: o grupo pró e o grupo contra a descriminalização do aborto. As três primeiras categorias, Saúde mental, Direito e Saúde pública, mesmo com diferenças na forma de apresentar o argumento, se repetem nos dois grupos. Todavia, a quarta categoria, Pressupostos, se diferenciou. No grupo pró descriminalização do aborto, apresentou-se como Pressupostos filosóficos e científicos, e no grupo contra, como Pressupostos morais. Por fim, a defesa da saúde mental das mulheres foi o principal argumento numa forma de humanizar o sofrimento vivido pelas que desejam abortar e não encontram o suporte do Estado para assegurar sua dignidade, cidadania e efetiva igualdade, garantidas constitucionalmente.(AU)

The study aimed to identify the arguments of the persuasion strategy of the speeches presented at the public hearing on the Action Against the Violation of Constitutional Fundamental Rights -ADPF 442, held in 2018, whose purpose was to discuss the voluntary interruption of pregnancy until the 12th week. To this end, a qualitative, analytical-descriptive, and documentary research was carried out. The object of analysis was the video recording of the hearing available on the YouTube platform, and in minutes drawn up by the STF, both of which are public. Based on a discourse analysis, the arguments used in the persuasion strategy were identified, which were systematized into four categories of arguments for each of the two identified groups: the group for and the group against the decriminalization of abortion. The first three categories, Mental Health, Law and Public Health, even with differences in the way of presenting the argument, are repeated in both groups. However, the fourth category, Assumptions, differed. In the group for the decriminalization of abortion, it was presented as Philosophical and Scientific Assumptions, whereas the group against, as Moral Assumptions. Finally, the defense of women's mental health was the main argument in a way of humanizing the suffering experienced by those who wish to have an abortion and do not find the support of the State to guarantee their dignity, citizenship, and effective equality, constitutionally guaranteed.(AU)

El estudio tuvo como objetivo identificar los argumentos de la estrategia de persuasión de los discursos presentados en la audiencia pública sobre el Argumento por Incumplimiento de un Percepto Fundamental -ADPF 442, realizada en 2018, con el objetivo de discutir la interrupción voluntaria del embarazo hasta la 12.ª semana. Para ello, se llevó a cabo una investigación cualitativa, analítico-descriptiva y documental. El objeto de análisis fue la grabación de la audiencia, que está disponible en la plataforma digital YouTube, y actas levantadas por el Supremo Tribunal Federal -STF, ambas de acceso público. A partir de un análisis del discurso se identificaron los argumentos utilizados en la estrategia de persuasión, los cuales se sistematizaron en cuatro categorías de argumentos para cada uno de los dos grupos identificados: el grupo pro y el grupo en contra de la despenalización del aborto. Las tres primeras categorías ("salud mental", "derecho" y "salud pública") aún con diferencias en la forma de presentar el argumento se repiten en ambos grupos. Pero difiere la cuarta categoría "supuestos". En el grupo a favor de la despenalización del aborto se presentó como "supuestos filosóficos y científicos", y en el grupo en contra, como "supuestos morales". Finalmente, la defensa de la salud mental de las mujeres fue el principal argumento en un intento por humanizar el sufrimiento que viven aquellas que desean abortar y no encuentran el apoyo del Estado para garantizar su dignidad, ciudadanía e igualdad efectiva, preconizadas por la Constitución.(AU)

Trends in female-selective abortion among Asian diasporas in the United States, United Kingdom, Canada and Australia.

Preference for sons and smaller families and, in the case of China, a one-child policy, have contributed to missing girl births in India and China over the last few decades due to sex-selective abortions. Selective abortion occurs also among Indian and Chinese diaspora, but their variability and trends over time are unknown. We examined conditional sex ratio (CSR) of girl births per 1000 boy births among second or third births following earlier daughters or sons in India, China, and their diaspora in Australia, Canada, United Kingdom (UK), and United States (US) drawing upon 18.4 million birth records from census and nationally representative surveys from 1999 to 2019. Among Indian women, the CSR in 2016 for second births following a first daughter favoured boys in India (866), similar to those in diaspora in Australia (888) and Canada (882). For third births following two earlier daughters in 2016, CSRs favoured sons in Canada (520) and Australia (653) even more than in India (769). Among women in China outside the one-child restriction, CSRs in 2015 for second order births somewhat favoured more girls after a first son (1154) but more heavily favoured boys after a first daughter (561). Third-birth CSRs generally fell over time among diaspora, except among Chinese diaspora in the UK and US. In the UK, third-birth CSRs fell among Indian but not among other South Asian diasporas. Selective abortion of girls is notable among Indian diaspora, particularly at higher-order births.

Shouldering Death: Moral Tensions, Ambiguity, and the Unintended Ramifications of State-sanctioned Second-trimester Selective Abortion in Denmark.

This article is based on an ethnographic study of pregnant couples' embodied, emotional, and moral experiences of second-trimester selective abortion in Denmark. Drawing on 16 selective abortion stories, I unpack the intense, often highly accelerated, days that follow from the moment a fetal aberration is detected to the moment of fetal disposal or burial. I show that although prenatal screening and diagnostics have come to occupy a routinized part of pregnancy in Denmark, when women and their partners opt for termination, they are faced with a series of bodily events and actions they are entirely unprepared for while at the same time feeling essentially alone in grappling with the moral confusion that ensues. I argue that despite widespread medico-legal sanctioning and social endorsement of selective abortion, the specificities of how such terminations are done in Denmark in ambiguous, and conflicted, ways situate women and their partners in a series of moral tensions around how to relate to the abortion, the dead fetus, their grief, and their entitlement to such mourning. By chronicling the core struggles that the process of termination catalyzes, I point to the social and moral ramifications of the embodied practices and medico-legal choreographing of selective abortion in Denmark. [selective abortion, moral tensions, embodied practices, responsibility, death].

Why Intellectual Disability is Not Mere Difference.

A key question in disability studies, philosophy, and bioethics concerns the relationship between disability and well-being. The mere difference view, endorsed by Elizabeth Barnes, claims that physical and sensory disabilities by themselves do not make a person worse off overall-any negative impacts on welfare are due to social injustice. This article argues that Barnes's Value Neutral Model does not extend to intellectual disability. Intellectual disability is (1) intrinsically bad-by itself it makes a person worse off, apart from a non-accommodating environment; (2) universally bad-it lowers quality of life for every intellectually disabled person; and (3) globally bad-it reduces a person's overall well-being. While people with intellectual disabilities are functionally disadvantaged, this does not imply that they are morally inferior-lower quality of life does not mean lesser moral status. No clinical implications concerning disability-based selective abortion, denial of life-saving treatment, or rationing of scarce resources follow from the claim that intellectual disability is bad difference.

Prenatal attachment, anxiety and grief during subsequent pregnancy after medical termination of pregnancy. Attachment to which child?

PURPOSE: To evaluate emotional distress and prenatal attachment throughout a subsequent pregnancy after Termination of Pregnancy (TOP) for fetal abnormality. METHODS: Observational study, in a French Tertiary Maternity. POPULATION: 25 women in a subsequent pregnancy after a medical termination of pregnancy for foetal abnormality, 18-year-old and older. Prenatal Interviews at 20 Gestationnal weeks (GW), 27 GW and 35 GW and Postnatal at 3 months and at each time self-administered questionnaires of anxiety, post-traumatic stress syndrome (PCLS) depressive symptoms (EPDS), prenatal attachment (PAI) and Perinatal Grief Scale (PGS). RESULTS: Pregnancy onset, i.e. before 20 GW, showed increased prevalence of anxiety (16/23, 66.7%), depression (7/23, 30.4%) and post-traumatic stress symptoms (4/16, 25%). Total score on PGS is higher in onset of pregnancy than in the third trimester (p = 0.005). Prenatal attachment was lower during early pregnancy (p = 0.003) and correlated inversely with grief intensity (p = 0.022). During late pregnancy, emotional symptoms decrease, and prenatal attachment stopped increase positively, specifically among women whose foetal abnormality in previous pregnancies were diagnosed late, at an average of 25 GW. CONCLUSION: This research shows the specific dynamics of pregnancies following TOP and highlights the necessity for early prenatal psychological support. One should also pay special attention to prenatal attachment during late pregnancy even after knowing that the fetus is healthy.

"But It's Not That They Don't Love Their Girls": Gender Equality, Reproductive Rights and Sex-Selective Abortion in Britain.

Recent demographic analysis of sex ratios at birth in the UK has signaled the issue of "missing girls" in British Asian minority populations. This paper juxtaposes the processes of reproductive regulation set in motion by this new demographic knowledge of son preference, with lived experiences of gender equality and family-making practices. Ethnographic research conducted with British Pakistani, Indian, and Bangladeshi families reveal diverse mechanisms of family decision-making that add to and nuance the prevailing statistics. We use the lens of "gender equality" and vernacular framings of sex-selective abortion to advance conceptual understandings of son preference as increasingly disconnected from selective reproduction, at the same time as selective reproduction is connected with the governance of ethnic minority identity and reproduction.

Birth Spacing and Fertility in the Presence of Son Preference and Sex-Selective Abortions: India's Experience Over Four Decades.

Since the advent of prenatal sex-determination technologies in the mid-1980s, India has experienced an increasingly male-biased sex ratio at birth, presumably from sex-selective abortions. Abortions lengthen birth intervals, but we know little about how birth spacing has changed or the effects of these changes. I show that, although the overall length of birth intervals increased from 1970 to the mid-2010s, well-educated women with no sons had the most substantial lengthening, as well as the most male-biased sex ratios. Furthermore, most of these changes took place immediately after the introduction of prenatal sex-determination technologies. Consequently, some women without sons now have longer birth intervals than those with sons, reversing India's traditional spacing pattern. Women with low education continue short birth spacing when they have no sons, with only limited evidence of male-biased sex ratios. Because of the rapid lengthening of birth intervals, period fertility rates substantially overestimated how fast cohort fertility fell. Moreover, predicted cohort fertility is still 10%-20% above the period fertility rate. If the lengthening of birth intervals arises from repeated abortions, the associated short pregnancy spacing may counteract any positive effects of longer birth spacing. There is, however, no evidence of this effect on infant mortality. Judging from sex ratios, sex-selective abortion use is not declining.

Conjoined twins in dichorionic diamniotic triplet pregnancy: a report of three cases and literature review.

BACKGROUND: Conjoined twins are a rare and serious complication of monochorionic twins. The total incidence is 1.5 per 100,000 births, and about 50% are liveborn. Prenatal screening and diagnosis of conjoined twins is usually performed by ultrasonography. Magnetic resonance imaging can be used to assist in the diagnosis if necessary. Conjoined twins in dichorionic diamniotic triplet pregnancy are extremely rare. CASE PRESENTATION: We reported three cases of dichorionic diamniotic triplet pregnancy with conjoined twins. Due to the poor prognosis of conjoined twins evaluated by multidisciplinary teams, selective termination of conjoined twins was performed in three cases. In case 1, selective reduction of the conjoined twins was performed at 16 gestational weeks, and a healthy female baby weighing 3270 g was delivered at 37 weeks. In case 2, the conjoined twins were selectively terminated at 17 weeks of gestation, and a healthy female baby weighing 2760 g was delivered at 37 weeks and 4 days. In case 3, the conjoined twins were selectively terminated at 15 weeks and 2 days, and a healthy female baby weighing 2450 g was delivered at 33 weeks and 6 days. The babies of all three cases were followed up and are in good health. CONCLUSION(S): Surgical separation is the only treatment for conjoined twins after birth. Early determination of chorionicity and antenatal diagnosis of conjoined twins in triplet gestations are critical for individualized management options and the prognosis of normal triplets. Expecting parents should be extensively counseled by multidisciplinary teams. If there are limitations in successful separation after birth, early selective termination of the conjoined twins by intrathoracic injection of potassium chloride may be a procedure in dichorionic diamniotic triplet pregnancy to improve perinatal outcomes of the normal triplet.

A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.

Achondrogenesis type II (ACG2) is a lethal skeletal dysplasia caused by dominant pathogenic variants in COL2A1. Most of the variants found in patients with ACG2 affect the glycine residue included in the Gly-X-Y tripeptide repeat that characterizes the type II collagen helix. In this study, we reported a case of a novel splicing variant of COL2A1 in a fetus with ACG2. An NGS analysis of fetal DNA revealed a heterozygous variant c.1267-2_1269del located in intron 20/exon 21. The variant occurred de novo since it was not detected in DNA from the blood samples of parents. We generated an appropriate minigene construct to study the effect of the variant detected. The minigene expression resulted in the synthesis of a COL2A1 messenger RNA lacking exon 21, which generated a predicted in-frame deleted protein. Usually, in-frame deletion variants of COL2A1 cause a phenotype such as Kniest dysplasia, which is milder than ACG2. Therefore, we propose that the size and position of an in-frame deletion in COL2A1 may be relevant in determining the phenotype of skeletal dysplasia.

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.

We studied a family in which the first-born child, a girl, had developmental delay, facial dysmorphism, and agenesis of the corpus callosum (ACC). The subsequent pregnancy was interrupted as the fetus was found to be also affected by ACC. Both cases were heterozygous for two KDM5B variants predicting p (Ala635Thr) and p (Ser1155AlafsTer4) that were shown to be in trans. KDM5B variants have been previously associated with moderate to severe developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and dysmorphism in a few individuals, but the pathogenetic mechanisms are not clear yet as patients with both monoallelic and biallelic variants have been observed. Interestingly, one individual has previously been reported with ACC and severe ID in association with biallelic KDM5B variants. Together with the observations in this family, this suggests that agenesis of the corpus callosum may be part of the phenotypic spectrum associated with KDM5B variants and that the KDM5B gene should be included in gene panels to clarify the etiology of ACC both in the prenatal and postnatal setting.

Prenatal diagnosis of congenital nephrotic syndrome of the Finnish type in a Chinese family.

OBJECTIVE: To explore the genetic bias in a Chinese family suspected of having congenital nephrotic syndrome of the Finnish type (CNF). CASE REPORT: We developed a prenatal genetic diagnosis in a Chinese family with CNF. A single heterozygous mutation (c.3213delG) was found in the foetus IId and we presumed that it was an asymptomatic carrier of the normal phenotype. Additionally, two compound heterozygous variants (c.3213delG and c.3478C > T) were discovered in the foetus IIe, which were inherited from the mother and father, respectively. We performed further pathological examinations after medical abortion. Kidney histopathology and immunofluorescence results were similar to those reported in previous studies. CONCLUSION: Prenatal genetic diagnosis of CNF still requires further research to explore the pathogenicity of suspected mutations.

Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin.

OBJECTIVE: We present prenatal diagnosis of recurrent mosaic ring chromosome 13 [r(13)] of maternal origin. CASE REPORT: A 27-year-old woman underwent amniocentesis at 17 weeks of gestation because of a past history of fetal abnormality caused by mosaic r(13) in the previous fetus associated with fetal intrauterine growth restriction (IUGR), a karyotype of 46,XY,r(13)[23]/45,XY,-13[10]/46,XY,idic r(13)[2] and a maternal origin of abnormal r(13). The parental karyotypes were normal. During this pregnancy, amniocentesis revealed a karyotype of 46,XX,r(13)[12]/45,XX,-13[8] and a 22.80-Mb deletion of chromosome 13q31.3-q34. The pregnancy was subsequently terminated, and a malformed fetus was delivered with craniofacial dysmorphism. Repeat amniocentesis revealed a karyotype of 46,XX,r(13)(p11.1q31)[18]/45,XX,-13[12]. The placenta had a karyotype of 46,XX,r(13)(p11.1q31)[27]/45,XY,-13[13]. Polymorphic DNA marker analysis using the DNA derived from the parental bloods and umbilical cord confirmed a maternal origin of the abnormal r(13). CONCLUSION: Prenatal diagnosis of mosaic r(13) in consecutive pregnancies should raise a suspicion of parental gonadal mosaicism, and polymorphic DNA marker analysis is useful for determination of the parental origin of recurrent aneuploidy under such a circumstance.

Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result.

OBJECTIVE: We present partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency (NT) and an abnormal maternal serum screening result. CASE REPORT: A 29-year-old primigravid woman underwent chorionic villus sampling (CVS) at 13 weeks of gestation because of an increased NT thickness of 3.2 mm at 12 weeks of gestation and an abnormal maternal serum screening for Down syndrome result with a calculated risk of 1/29. Her husband was 33 years old, and there was no family history of congenital malformations. CVS revealed a derived chromosome 8 or der(8). Cytogenetic analysis of the parents revealed a karyotype of 46,XY,t(8;15)(p21.3;q13) in the father and a karyotype of 46,XX in the mother. The CVS result was 46,XY,der(8)t(8;15)(p21.3;q13)pat. The woman requested for amniocentesis at 16 weeks of gestation. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed a result of arr 8p23.3p23.2 (191,530-2,625,470) × 1.0, arr 15q21.2q26.3 (50,903,432-102,338,129) × 3.0 with a 2.434-Mb deletion of 8p23.3-p23.2 including DLGAP2, CLN8 and ARHGEF10, and a 51.435-Mb duplication of 15q21.2-q26.3 including CYP19A1 and IGF1R. Conventional cytogenetic analysis of cultured amniocytes revealed the result of 46,XY,der(8) t(8;15)(p23.2;q21.2)pat in the fetus. The pregnancy was subsequently terminated, and a malformed fetus was delivered with characteristic craniofacial dysmorphism. CONCLUSION: Maternal serum screening and NT screening may incidentally detect familial unbalanced reciprocal translocations, and aCGH analysis is useful for a precise determination of the breakpoints of the translocation and the involvement of the related genes under such a circumstance.

Genomic Chaos (Multiple Copy Number Variations and Structural Reorganization) Detected in Two Prenatal Cases.

The use of new technologies in the routine diagnosis of constitutional abnormalities, such as high-resolution chromosomal microarray and next-generation sequencing, has unmasked new mechanisms for generating structural variation of the human genome. For example, complex chromosome rearrangements can originate by a chromosome catastrophe phenomenon in which numerous genomic rearrangements are apparently acquired in a single catastrophic event. This phenomenon is named chromoanagenesis (from the Greek "chromo" for chromosome and "anagenesis" for rebirth). Herein, we report 2 cases of genomic chaos detected at prenatal diagnosis. The terms "chromothripsis" and "chromoanasynthesis" and the challenge of genetic counseling are discussed.

Postmortem Assessment of Isolated Congenital Heart Defects Remains Essential Following Termination of Pregnancy.

OBJECTIVES: To investigate the correlation between prenatal ultrasound (US) and autopsy findings in pregnancies terminated due to isolated congenital heart defects (CHDs), including CHDs associated with heterotaxy syndrome. MATERIALS AND METHODS: The material consists of 67 fetuses with prenatally detected isolated CHDs or CHDs associated with heterotaxy syndrome at a tertiary center in Norway between 1985 and 2014. The main CHDs were categorized into subdiagnoses of CHDs in accordance with ICD-10. The US and autopsy findings were categorized according to degree of concordance. RESULTS: Gestational age at termination was 12 + 0-22 + 6 weeks. Hypoplastic left heart syndrome was the most common main diagnosis among the 67 fetuses (32.8%). There was full agreement between US and autopsy findings in 97.4% (222/228) of all subdiagnoses. The discrepant findings in three fetuses had no influence on the decision to terminate the pregnancy. CONCLUSIONS: The correlation was high between prenatal US and postmortem findings in fetuses with isolated CHDs. Meticulous assessment of cardiac anatomy is particularly necessary when the decision to terminate relies on isolated CHDs. The trend of earlier termination challenges verification of diagnoses at autopsy. Consequently, the fetus should be examined at a tertiary center with fetal medicine specialists, pediatric cardiologists and perinatal pathologists.