Abstract Objective To assess the incidence of macrosomia and the influence of birth weight on shoulder dystocia risk among a cohort of Chinese women. Methods A retrospective analysis was conducted of ...80 953 singleton deliveries recorded at the Prince of Wales Hospital, Hong Kong, between 1995 and 2009. The incidences of macrosomia (birth weight ≥ 4000 g) and shoulder dystocia were assessed by birth weight; risk factors for shoulder dystocia were examined by multiple logistic regression analysis. Results The incidence of macrosomia was 3.4%. The overall incidence of shoulder dystocia was 0.3%; however, the incidence rose with increasing birth weight. The odds ratio (OR) for a birth weight of 4000–4199 g was 22.40, while the OR for a birth weight of 4200 g or above was 76.10. Other independent risk factors for shoulder dystocia included instrumental delivery (OR 12.11), short stature (OR 2.16), maternal diabetes mellitus (OR 1.78), and obesity (OR 1.58). Conclusion Although the overall incidences of macrosomia and shoulder dystocia were low, the risk of shoulder dystocia was strongly linked to increasing birth weight. International guidelines for elective cesarean delivery in suspected cases of macrosomia may not, therefore, apply to Chinese women.
Previous studies have shown that immunological factors are involved in the pathogenesis of autism spectrum disorders (ASDs). However, this research has been conducted almost exclusively in Western ...contexts, and only a handful of studies on immune measures have been conducted in Asian populations, such as Chinese populations. The present study examined whether immunological abnormalities are associated with cognitive deficits and problem behaviors in Chinese children with ASD and whether these children show different immunological profiles. Thirteen typically developing (TD) children and 22 children with ASD, aged 6-17 years, participated voluntarily in the study. Executive functions and short-term memory were measured using neuropsychological tests, and behavioral measures were assessed using parent ratings. The children were also assessed on immunological measures, specifically, the levels of cytokines and chemokines in the blood serum. Children with ASD showed greater deficits in cognitive functions, as well as altered levels of immunological measures, including CCL2, CCL5, and CXCL9 levels, compared to TD children, and the cognitive functions and associated behavioral deficits of children with ASD were significantly associated with different immunological measures. The children were further sub-classified into ASD with only autistic features (ASD-only) or ASD comorbid with attention deficit hyperactivity disorder (ASD + ADHD). The comorbidity results showed that there were no differences between the two groups of ASD children in any of the cognitive or behavioral measures. However, the results pertaining to immunological measures showed that the children with ASD-only and ASD + ADHD exhibited distinct cytokine and chemokine profiles and that abnormal immunologic function was associated with cognitive functions and inattention/hyperactivity symptoms. These results support the notion that altered immune functions may play a role in the selective cognitive and behavioral symptoms of ASD.
There is significant morbidity associated with fragile X syndrome. Unfortunately, most maternal carriers are clinically silent during their reproductive years. Because of this, many experts have put ...forward the notion of preconception or prenatal fragile X carrier screening for females. This study aimed to determine the prevalence of fragile X syndrome pre-mutation and asymptomatic full-mutation carriers in a Chinese pregnant population, and the distribution of cytosine-guanine-guanine (CGG) repeat numbers using a robust fragile X mental retardation 1 (FMR1) polymerase chain reaction assay.
This was a cross-sectional survey in prospectively recruited pregnant women from a university hospital in Hong Kong. Chinese pregnant women without a family history of fragile X syndrome were recruited between April 2013 and May 2015. A specific FMR1 polymerase chain reaction assay was performed on peripheral blood to determine the CGG repeat number of the FMR1 gene. Prenatal counselling was offered to full-mutation and pre-mutation carriers.
In 2650 Chinese pregnant women, two individuals with pre-mutation alleles (0.08%, one in 1325) and one asymptomatic woman with full-mutation (0.04%, one in 2650) alleles were identified. The overall prevalence of pre-mutation and full-mutation alleles was 0.11% (1 in 883). Furthermore, 30 (1.1%) individuals with intermediate alleles were detected. In the 2617 women with normal CGG repeats, the most common CGG repeat allele was 30.
The overall prevalence of pre-mutation and asymptomatic full-mutation carriers in the Chinese pregnant population was one in 883, detected by a new FMR1 polymerase chain reaction assay.
Introduction: The aim of the present study was to calculate the prevalence of chromosomal abnormalities among antenatally diagnosed congenital heart diseases (CHDs), and the prevalence of 22q11.2 ...deletion in those with conotruncal CHDs versus isolated non-conotruncal CHDs. Methods: All patients with antenatal ultrasound finding of fetal CHDs in two obstetric units in a 5-year period were retrospectively reviewed. Detected CHDs were classified as conotruncal if the malformation involved either the aortic outflow tract or the pulmonary outflow tract; otherwise they were classified as non-conotruncal. Karyotyping, fluorescence in situ hybridisation for 22q11.2 deletion (22q11FISH), and array comparative genomic hybridisation (aCGH) results were retrieved from patient medical records. The primary outcome was prevalence of chromosomal abnormalities in CHDs. The secondary outcomes were prevalence of 22q11.2 deletion and its prevalence in conotruncal versus non-conotruncal CHDs. Results: A total of 254 Chinese patients were diagnosed to have fetal CHDs. In all, 50 (19.7%) were found to have chromosomal abnormalities with seven (2.8%) patients having 22q11.2 deletion, of whom all seven had conotruncal CHDs and none had non-conotruncal CHDs (P<0.05). Conventional karyotyping detected 35 (70%) cases of the chromosomal abnormalities. The 22q11FISH detected three cases of 22q11.2 deletion; aCGH was performed to detect four cases of 22q11.2 deletion and eight other cases of copy number variations. Conclusion: Our results suggest that invasive testing for karyotyping is recommended for fetal CHDs. Although the prevalence of 22q11.2 deletion was low, testing for 22q11.2 deletion should be offered for conotruncal CHDs.
Prenatal sonographic diagnosis of Optiz G/BBB syndrome is difficult because the common clinical features, such as hypertelorism, hypospadias and abnormalities of midline structures, including ...laryngotracheoesophageal defects, are subtle.
Chromosomal microarray (CMA) analysis using a target enriched Fetal DNA Chip design was performed on the DNA of a fetus with congenital cardiac abnormalities.
Fetal DNA chip revealed a 48Kb single copy number loss within chromosome region Xp22.2 (arrhg18Xp22.2(10,627,354–10,675,946)x0 mat). This deletion included the 3′ UTR region of the MID1 gene predicted to cause the X-linked Opitz G/BBB syndrome.
This case supports the use of CMA in prenatal diagnosis of fetuses with congenital heart disease. CMA allows prenatal diagnosis of genomic aberrations at a much higher resolution compared with conventional karyotyping, and such findings enable proper genetic counseling and decision making in the pregnancy.
Extremely low birth weight (ELBW) infants exhibit high rates of mortality and morbidity. We retrospectively assessed factors associated with mortality and morbidity among ELBW infants.
Perinatal ...demographic data were reviewed for all ELBW infants born between 2010 and 2017 at a tertiary neonatal unit.
For non-survivors (21% of ELBW infants) and survivors, the median gestational ages were 24.1 and 26.2 weeks, respectively, and median birth weights were 650 g and 780 g, respectively (all P<0.001). Regression analyses showed that non-survival was positively associated with lower gestational age (adjusted odds ratio aOR=6.71 for every 1-week decrease; 95% confidence interval CI=1.73-26.00; P=0.006) and grade 3 or 4 intraventricular haemorrhage (aOR=29.23; 95% CI=1.39-613.84; P=0.030); non-survival was negatively associated with the presence of bronchopulmonary dysplasia (aOR=0.01; 95% CI= <0.001-0.23; P=0.005); length of neonatal intensive care unit stay for survivors was positively associated with the presence of necrotising enterocolitis (B-coefficient=89.60; 95% CI=43.86-135.34; P<0.001); and length of hospital stay for survivors was positively associated with the presence of necrotising enterocolitis (B-coefficient=2.08; 95% CI=0.43-3.73; P=0.015) and a low Apgar score at 1 minute (B-coefficient=-0.63; 95% CI=-1.04 to -0.22; P=0.003).
Extremely low birth weight infants exhibited significant mortality and morbidity; there was no survival prior to 23.6 weeks' gestation or below 550 g birth weight. The presence of grade 3 or 4 intraventricular haemorrhage was independently associated with non-survival. Survivors were significantly more likely to exhibit bronchopulmonary dysplasia; survivors with necrotising enterocolitis were more likely to require longer stays in the neonatal intensive care unit and in hospital.
Abstract
Objective: To determine the relationship between advanced maternal age ( 35 years) and incidence of postpartum hemorrhage (PPH) in singleton pregnancies managed over a 10-year period.
...Method: Retrospective cohort study comparing demographics, risk factors, complications, infant outcome, and incidence of PPH between parturients aged 35 and <35 years at delivery.
Results: Parturients aged 35 years (12 686/64 886 or 19.6%) had significantly increased obstetric risk factors, complications, cesarean delivery, large-for-gestational age infants, and incidence of PPH, but no difference in the attributed cause of PPH such as uterine atony, retained placenta, genital lacerations, except for multiple factors. Multivariate analysis indicated that aging was actually associated with decreased PPH, the risk decreasing progressively from those aged 25-29 years to those aged 40 years compared with the 20-24 years group.
Conclusions: Advanced maternal age only served as a surrogate factor for PPH due to the associated increased risk factors, obstetric complications and interventions.
A fetus of Chinese descent presented with ultrasound features of anemia at 20 weeks' gestation. Father had low a mean corpuscular volume (MCV) level. Multiplex gap-polymerase chain reaction (gap-PCR) ...excluded common α-thalassemia (α-thal) deletions and mutations and PCR sequencing of the α1- and α2-globin genes were negative. The fetus had a normal karyotype. Array comparative genomic hybridization (aCGH) showed a single copy loss of 189.87 kb in chromosome 11p15.4, involving the whole β-globin gene cluster, inherited from the father. Multiplex ligation-dependent probe amplification (MLPA) confirmed the deletion included the ε-globin gene, confirming the diagnosis of heterozygous (εγδβ)
0
-thalassemia (εγδβ)
0
-thal, also inherited from the father. The fetus had a worsening anemic condition in utero and required a transfusion at 26 weeks' gestation, raising the hemoglobin (Hb) level from 5.3 to 12.6g/dL. A cesarean-section was subsequently performed at 32 weeks' gestation because of reduced fetal movements, and a 1650g baby girl with good Apgar scores was delivered. Hemoglobin at birth was 12.8g/dL, gradually dropping to 6.8 g/dL, requiring three neonatal transfusions. Her condition gradually stabilized after 2 months with Hb stable at 8.0 g/dL. Family screening by MLPA showed that the paternal grandmother carried the same deletion. The deletion in this case is distinct and is the reported first case. The deletion transmitted across three successive generations with great phenotypic variation. The final adult phenotype of (εγδβ)
0
-thal is usually mild, therefore, with accurate prenatal diagnosis this condition is salvageable by in utero and early neonatal transfusions, preventing adverse pregnancy and neonatal outcomes.
Objective
To evaluate the outcome of three different modes of management of abnormally invasive placenta over a 6‐year period.
Design
Retrospective cohort study.
Setting
Tertiary hospital in Hong ...Kong.
Population
In 39 757 deliveries, 25 cases of abnormally invasive placenta were identified at cesarean section.
Methods
Identification of cases by hospital database and review of medical records.
Main outcome measures
Blood loss, blood transfusion requirement, operative time, duration of hospital stay, secondary postpartum hemorrhage and endometritis.
Results
Six women were managed by leaving the placenta in situ and by postoperative uterine artery embolization. Ten women were managed by an extirpative approach and nine women with direct cesarean hysterectomy. The success rate of nonremoval of the placenta with uterine artery embolization was 4/6 (67%). The intraoperative blood loss, blood transfusion requirements and operation times were lowest in the group with nonremoval of the placenta, although a higher secondary complication rate and a longer hospital stay followed.
Conclusion
Nonremoval of an abnormally invasive placenta at cesarean section and prophylactic postoperative uterine artery embolization are an alternative to elective cesarean hysterectomy.
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