Background We report a pair of dichorionic diamniotic (DCDA) twin pregnancy affected by Noonan syndrome (NS) with a novel mutation of LZTR1 determined by genetic analysis. Case presentation A pregnant woman with monozygotic twins (DCDA) at 12 + 2 weeks gestation was referred to our center. This was her second pregnancy following a previous delivery of a healthy infant. Nuchal translucency of two fetuses was 11.2 mm (CRL 62.0 mm) and 6.9 mm (CRL 62.1 mm) respectively. Ultrasound examination indicated cystic hygroma and hypoplastic ear. The couple was not consanguineous, and both had normal phenotype. Familial hereditary disease was also excluded. Under ultrasound guidance, 30 mg of chorionic villi was obtained for karyotyping, quantitative fluorescent polymerase chain reaction (QF-PCR), chromosomal microarray analysis(CMA), and Trio-whole-exome sequencing(WES) examination. We used the “target region capture and sequencing” for WES, and the BWA (Burrows Wheeler Aligner) Multi-Vision software package for the data analysis. The results of all these tests were normal except WES detected a c.427 A > G mutation in the exonic region of the LZTR1 gene and a p. Asn143Asp novel heterozygous mutation associated with NS in this pair of twins. In addition, WES suggested that the mutation in the twin fetuses originated from the mother. When the mother got the genetic test report, she came to our fetal medicine department for genetic counseling and she declined the appointment with a clinical geneticist. The couple opted to terminate the pregnancy. Because the patient did not choose to terminate the pregnancy at our hospital, we were unable to take further examination. With the help of colleagues in another hospital, photos of the fetuses were taken. Compared with the prenatal ultrasound results, the appearance of the “cystic hygroma” and “hypoplastic ear” was consistent with the ultrasound. The couple were depressed after knowing this pathogenic result and although we advised the mother to take further investigation, they refused. Conclusion The mutant locus might be incompletely dominant, which led to an abnormal fetal phenotype such as cystic hygroma and hypoplastic ear.

Background: To assess the indications and complications of late amniocentesis, and the advantage of advanced genetic test results in a tertiary university fetal medical medicine unit.Methods: In this retrospective study, women that underwent amniocentesis at 24+0 to 39+4 weeks, between January 2014 and December 2019, were recruited. Indications, complications, genetic test results, and pregnancy outcomes were reported for each pregnancy. Information was retrieved from patient medical records, checked by research staff, and analyzed. Results: Of the 1277 women (1311 fetuses) included, late detected sonographic abnormalities (86.2%) were the most common indication. The overall preterm birth and intrauterine demise rate were 2.6% and 1.2%, respectively, after amniocentesis. Sixty-six fetuses with aneuploidy (5.1%) and sixty-seven fetuses with pathogenic copy number variations (5.1%) were identified by chromosomal microarray analysis. One pathogenic copy number variation was detected by whole-exome sequencing. The maximal diagnostic yield (36.1%) was in the subgroup of fetuses with the abnormal noninvasive prenatal test, following by multiple abnormalities (23.8%). And 35.8% of the pregnancies were finally terminated.Conclusions: Due to the high detection rates of advanced genetic technologies and safety of the invasive procedure, it is reasonable to recommend late amniocentesis as an effective and credible method to detect late-onset fetal abnormalities. However, chromosomal microarray and whole-exome sequencing may result in uncertain results like variants of uncertain significance. Therefore, comprehensive genetic counseling is necessary.

Background: Monogenic diseases affect about 10 in 1000 live births globally and account for 20% of infant mortality and 18% of pediatric hospitalizations. Many monogenic disorders could be prevented by offering expanded carrier screening (ECS) to the general population. The purpose of our study was to assess knowledge about monogenic diseases and attitudes toward ECS in China.Methods: Chinese individuals were invited to complete an online survey from July 11 to September 10, 2020. A total of 1663 questionnaires were collected. Statistical analysis was performed using IBM SPSS Statistics 26. Descriptive statistics were computed for all items. Categorical data were reported as frequencies and percentages with differences assessed by chi-square test.Results: The respondents’ total awareness rate ranged from 3.3% to 55.2%. Medical practitioners had more knowledge than non-medical practitioners. Knowledge about monogenic diseases was positively correlated with educational level. Most respondents showed a positive attitude toward ECS: 54.4% of respondents thought ECS was necessary, and 80.5% wanted to know more about monogenic diseases.Conclusions: Although the public had little knowledge about monogenic disease and ECS, most of them showed a positive attitude. Lack of knowledge is a barrier to application of ECS. Since pre-test counseling by a genetic counselor before ECS may not always be feasible, pre-test information may not be delivered by a trained genetic counselor. If clinicians are going to be the primary counselors, further education is necessary to improve their comfort and competence with this role.

Background: This study aimed to assess the COVID-19 Delta variant impact on the incidence of depressive and anxiety symptoms in pregnant women in Guangdong Province, China, as well as to identify related risk factors.Methods: A three-week, multisite, cross-sectional study was conducted from June to July 2021 to evaluate the mental health status of pregnant women by the Edinburgh Postnatal Depression Scale. Approximately 1,450 women from 25 Guangdong hospitals were included in the study. We employed the Edinburgh Postnatal Depression Scale to assess symptoms of maternal depression and anxiety. Risk factors and relevance rates were analyzed.Results: Pregnant women who were determined to be underweight before pregnancy, primiparous, above 35 years of age, employed full-time, of middle income status, and had comfortable living arrangements were at higher risk of developing depression and anxiety during a COVID-19 outbreak.Conclusion: The occurrence of the COVID-19 Delta variant has increased the risk of mental disorders in pregnant women, which include thoughts of self-harm. Programs designed to address maternal stress as well as isolation such as constructive risk, communication, and providing psychological first aid may be particularly useful to avoid negative outcomes in pregnant women and their fetuses.