Expanded Carrier Screening in Chinese Population - A Survey on Views and Acceptance of Pregnant and Non-Pregnant Women.

Objective: Recessive genetic diseases impose physical and psychological impacts to both newborns and parents who may not be aware of being carriers. Expanded carrier screening (ECS) allows screening for multiple genetic conditions at the same time. Whether or not such non-targeted panethnic approach of genetic carrier screening should replace the conventional targeted approach remains controversial.

Prenatal and postnatal diagnosis of Schuurs-Hoeijmakers syndrome: Case series and review of the literature.

Schuurs-Hoeijmakers syndrome (SHS) is a rare syndrome involving a de novo variant in the PACS1 gene on chromosome 11q13. There are 36 individuals published in the literature so far, mostly diagnosed postnatally (34/36) after recognizing the typical facial features co-occurring with developmental delay, intellectual disability, and multiple malformations. Herein, we present one prenatal and 15 postnatal cases with the recurrent heterozygous pathogenic variant NM_018026.

Hypomanic symptoms in early pregnancy: prevalence and associated factors.

Given that the perinatal period is a time of increased risk for pregnant women to manifest mental health problems, the identification of antenatal hypomanic symptoms is particularly important. However, data on antenatal hypomanic symptoms is lacking. The present study was aimed at filling this research gap by investigating the prevalence of hypomanic symptoms, including the "active-elated" and "irritable/risk-taking" sides of hypomanic symptoms at the first trimester, and examining their associations with anxiety and depressive symptoms at the following time points: the first trimester, the second trimester, and up to 6-week postpartum.

Associations of body dissatisfaction with anxiety and depression in the pregnancy and postpartum periods: A longitudinal study.

Background: Pregnancy is a time of increasing vulnerability to the development of body dissatisfaction, anxiety, and depression. The present study aims to examine associations of body dissatisfaction with anxiety and depression at the following points: 6 months before pregnancy (retrospective report); in the first, second, and third trimesters of pregnancy; and up to 6 weeks postpartum.

Methods: A prospective longitudinal design with a quantitative approach was adopted.

Course, risk factors, and adverse outcomes of disordered eating in pregnancy.

Objective: Although eating disorders in pregnancy have been studied extensively, little research attention has been given to disordered eating. The objectives of the present study were to determine the prevalence and levels of disordered eating in the perinatal period, and to identify risk factors and adverse outcomes of disordered eating during pregnancy.

Method: A prospective longitudinal design with a quantitative approach was adopted.

The effect of rupture of membranes and labour on the risk of hepatitis B vertical transmission: Prospective multicentre observational study.

Objective: To evaluate the effect of rupture of membranes and labour on the risk of hepatitis B virus (HBV) vertical transmission.

Study Design: A prospective multicentre observational study was carried out in Hong Kong between 2014-2016. Pregnant HBV carriers were recruited.

Health professionals' involvement and information provision in genetic counseling following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong.

This study supports training in genetic counseling for obstetricians and adoption of a multidisciplinary approach in the counseling process following prenatal diagnosis of sex chromosome aneuploidy.

The Accuracy of Self-Screening of Group B Streptococcus in Pregnant Women-A Randomized Crossover Study.

Objective: Universal screening of vaginal and rectal group B streptococcus (GBS) carriage in pregnant women is now recommended in many countries to identify at-risk pregnancies and reduce the risk of early-onset GBS disease in newborn infants. This study compared self-screening by pregnant women with screening by health care workers in a largely Chinese population.

Methods: A randomized crossover study was conducted in Hong Kong.

Bridging the gap from prenatal karyotyping to whole-genome array comparative genomic hybridization in Hong Kong: survey on knowledge and acceptance of health-care providers and pregnant women.

Purpose: The use of array comparative genomic hybridization (aCGH) has been increasingly widespread. The challenge of integration of this technology into prenatal diagnosis was the interpretation of results and communicating findings of unclear clinical significance. This study assesses the knowledge and acceptance of prenatal aCGH in Hong Kong obstetricians and pregnant women.

Parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong.

Aim: According to the published work, pregnancy termination rates due to prenatal diagnosis of fetal sex chromosome aneuploidies (SCA) vary widely. Some potentially modifiable and non-modifiable factors have been reported to be associated with parental decision. This study aimed to evaluate the rate of pregnancy termination for fetal SCA and the factors influencing parents' decisions in Hong Kong.

Comparing the accuracy of obstetric sonography and fetal echocardiography during pediatric cardiology consultation in the prenatal diagnosis of congenital heart disease.

Aim: The diagnostic accuracy of fetal echocardiogram performed by an obstetrician alone and that performed jointly by an obstetrician and pediatric cardiologist for congenital heart disease were compared.

Materials And Methods: All cases of suspected fetal congenital heart disease (CHD) referred to the Prenatal Diagnostic Clinic at Tsan Yuk Hospital, Hong Kong during 2006-2011 were reviewed. Prenatal fetal echocardiogram findings were compared with postnatal diagnosis.

A questionnaire study on the acceptability of self-sampling versus screening by clinicians for Group B Streptococcus.

Background: Group B Streptococcus (GBS) is a leading cause of neonatal morbidity and mortality. In an effort to reduce the impact of this serious affliction, universal screening for GBS has been adopted in many countries. The objective of this study was to examine the acceptability of self-collected GBS swabs in a local population in Hong Kong.

Lifestyle modifications in the development of diabetes mellitus and metabolic syndrome in Chinese women who had gestational diabetes mellitus: a randomized interventional trial.

Objectives: To study whether lifestyle intervention can reduce the development of type II diabetes mellitus (DM) and metabolic syndrome (MS) among Chinese women who had gestational diabetes mellitus (GDM).

Methods: A prospective randomized controlled interventional trial of 450 women who had GDM and impaired glucose tolerance (IGT) postpartum. Advice on diet and exercise was given to the intervention group and reinforced in each follow-up visit.

Cystic hygroma detected in the first trimester scan in Hong Kong.

Objective: To investigate the outcome of fetuses with cystic hygroma (CH) diagnosed at the first trimester from a general population in Hong Kong.

Method: This was a prospective study of 30 fetal cystic hygroma detected at 11 to 13 + 6 weeks' gestation in 8835 sequential unselected pregnancies. Fetal cystic hygroma was categorized as isolated cystic hygroma (ICH) or associated cystic hygroma (ACH) according to the presence of associated multiple congenital structural abnormalities (MCA).

Randomized non-invasive sham-controlled pilot trial of electroacupuncture for postpartum depression.

Background: Postpartum depression affects 10-15% of mothers. Although acupuncture was efficacious for major depressive disorder in pregnancy and in women outside the perinatal period, there has been no randomized controlled study on the feasibility, tolerability, and efficacy of acupuncture for postpartum depression.

Methods: This was a randomized, subject- and assessor-blind, parallel-group, sham-controlled trial.

Fetus in fetu--from prenatal ultrasound and MRI diagnosis to postnatal confirmation.

We report a case of fetus in fetu presented as a complex intra-abdominal heterogeneous cystic lesion during ultrasound examination of the fetus at 25 weeks of gestation. Progressive growth of this mass was noted in the prenatal period. Fetal magnetic resonance imaging provided additional information to aid in the prenatal diagnosis.

Sonographic features of hemivertebra at 13 weeks' gestation.

Hemivertebra is a rare congenital spinal disorder where only one side of the vertebral body develops, leading to deformation of the spine, such as scoliosis or kyphosis. Previous reports suggest that the diagnosis may be based on antenatal sonographic examination after 14 weeks. We present the sonographic features of a fetus with solitary hemivertebra at 13 weeks' gestation confirmed by postmortem babygram, magnetic resonance imaging (MRI) and pathological examination.

First-trimester fetal limb biometry in Chinese population.

Objectives: To establish reference ranges for fetal limb biometry obtained by transabdominal ultrasound examination at 12-14 weeks of gestation in Chinese women.

Methods: A total of 1489 normal singleton fetuses between 12(+0) and 14(+6) weeks of gestation were examined transabdominally by two experienced observers. The gestation was ascertained by measurement of fetal crown-rump length (CRL) or biparietal diameter (BPD) and head circumference (HC).

The prevalence of polycystic ovaries in Chinese women with a history of gestational diabetes mellitus.

In the present study we aimed to define the prevalence of polycystic ovaries (PCO), using the revised ultrasound criterion, in Chinese women with previous gestational diabetes mellitus (GDM), as well as their associated clinical, hormonal and biochemical characteristics. Seventy Chinese women with previous GDM were recruited as the study group. The control group comprised women matched for age, parity and delivery year who had a normal oral glucose tolerance test during their index pregnancy.

Human chorionic gonadotropin and plasma protein-A in alpha0-thalassemia pregnancies.

Objective: Maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) have been used effectively in the screening of Down syndrome in the first trimester. In this study, we aim to measure the value of first-trimester maternal serum free beta-hCG and PAPP-A as predictors of homozygous alpha0-thalassemia-affected pregnancies.

Methods: Free beta-hCG and PAPP-A concentrations were measured in stored maternal serum samples obtained at 12 weeks of gestation from 22 women with fetuses affected by homozygous alpha0-thalassemia and from 436 controls matched for maternal age, ethnicity, and weight, as well as gestation at blood sampling.