Vitamin and homocysteine status of mothers and infants and the risk of nonsyndromic orofacial clefts

OBJECTIVE: This study was undertaken to investigate the involvement of maternal and infant B vitamins and homocysteine as risk factors for orofacial clefting. STUDY DESIGN: Venous blood samples were taken from 96 infants with nonsyndromic orofacial clefts and 88 infants without a congenital malformation and from their mothers at approximately 14 months after the index pregnancy. Red blood cell and serum folate, serum vitamin B(12), whole blood vitamin B(6) as pyridoxal-5'-phosphate (PLP), and plasma homocysteine concentrations were measured. RESULTS: A vitamin B(12) concentration of 185 pmol/L or less and a PLP concentration of 44 nmol/L or less in mothers increased the risk of having a child with an orofacial cleft (odds ratio [OR]=3.1; 95% CI: 1.3-7.4, OR=2.9; 95% CI: 1.2-7.1, respectively). Infants with orofacial clefts had a 15% lower serum folate concentration compared with controls (P=.06). CONCLUSION: A low vitamin B(12) and PLP concentration in mothers increased the risk of orofacial clefts in the offspring. A possible role of the infant's folate status is suggested.     

Prenatal diagnostic rates and postnatal outcomes of fetal orofacial clefts in a Taiwanese population

Objective

To report the incidence, prenatal diagnostic rate, and postnatal outcomes of fetal orofacial cleft at a tertiary referral center in Taiwan.

Methods

The demographic data, maternal and fetal characteristics, and postnatal outcomes for fetuses with cleft lip and/or cleft palate (CL/P) born between January 1998 and December 2008 at Chang Gung Memorial Hospital, Taipei, were reviewed retrospectively, and diagnostic rates were evaluated according to cleft type.

Results

Among 26 499 deliveries, 84 were affected with CL/P. The mean maternal age and gestational age at detection of CL/P were 30.37 years (range 21-41 years) and 24.7 weeks (range 18-33 weeks), respectively. Thirty-one fetuses had associated structural anomalies, 5 of which involved chromosomal aberrations. CL/P was diagnosed prenatally for 74 (88%) fetuses. After consultations, 17 pregnancies (20%) were aborted. The postnatal survival rate was 95.5% (64/67 infants). The type of cleft had a significant influence on correct prenatal diagnosis (P < 0.001).

Conclusion

For fetuses diagnosed prenatally with an orofacial cleft, access to an experienced craniofacial team, well-planned delivery, and pediatric intensive care led to favorable postnatal outcomes after lethal malformations were excluded through detailed sonographic and chromosomal evaluations.     

Prognosis of children born to mothers with HELLP-syndrome

In literature there have been differences in the assessment of the outcome of children born to mothers with HELLP syndrome. In a retrospective study we investigated six annual groups (1989-1994) at the Perinatal Center in Erlangen (11,235 births, 68 children of mothers with HELLP syndrome), 53 children were treated in our neonatal intensive care unit (NICU). The control group (n = 219) consisted of a complete age group in our NICU. The gestational age (mean 33 weeks, p < 0.003) and the birth weight (mean 1671 g, p < 0.001) were significantly lower in the HELLP group. No significant differences were detected with respect to the frequency of leucocytopenia (p = 0.518) and thrombocytopenia (p = 0.215). Despite a relatively high rate (37.7%) of RDS there was only a significant tendency to the disadvantage of HELLP children (p = 0.075). There was no difference in frequency of intracranial hemorrhage (ICH) (p = 0.566). Infections were diagnosed less frequently in HELLP children (p = 0.042). Mortality in the control group was higher only as a tendency (p = 0.07). The follow-up examinations of the neurological development covered 31 of the 53 treated children. After 6-72 months (median 24 months), 90.3% of these children showed normal development or only minor disabilities. The prognosis of children of mothers with HELLP syndrome is not as bad as has been assumed so far.     

Reproductive history in mothers of children with neural tube defects

The reproductive history of 100 women with at least 1 child with a neural tube defect (NTD) has been studied. The data analyzed correspond to the period previous to their first visit to a genetic counseling service. A total of 204 pregnancies resulted in 205 outcomes. Of the 100 sibships, 14 (14%) had more than 1 affected member. The pregnancy was shorter than 28 weeks in 56/205 (27%) of the total outcomes. Of 104 evaluable previous outcomes, 34 corresponded to short pregnancies, positioned before an affected (23/60, 38%), a healthy (2/18, 11%), or an undiagnosed product (9/26, 35%). Short pregnancies subsequent to affected outcomes were also increased. The inter-gestational interval varied according to diagnosis: it was longer in the affected group than in the healthy one (0.1 > p > 0.05) and the subsequent intervals were shorter for the affected group (p < 0.05). An increased number of abortions adjacent to affected offspring and a changing fertility pattern, depending on the product diagnosis, point to an environmental etiological component in this high-risk NTD group of mothers.     

1型糖尿病患儿血清维生素A和维生素D水平及其临床意义

目的分析1型糖尿病(T1DM)患儿血清维生素A和维生素D水平变化及其临床意义。方法 2012年2月至2015年1月南阳市中心医院儿科收治住院的T1DM患儿45例,为T1DM组,其中27例合并酮症酸中毒(DKA)。同期选取本院健康体检儿童38例,为对照组。采用酶联免疫吸附法测定血清维生素A和维生素D水平。结果 T1DM患儿血清维生素A和维生素D水平均低于对照组,差异有统计学意义(P0.05)。单纯T1DM患儿血清维生素A和维生素D与T1DM合并DKA患儿比较差异均无统计学意义(P0.05)。结论及时、足量补充维生素A和维生素D可能降低或延迟儿童T1DM发病。     

Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial clefts

In utero diagnosis of de novo distal 11q deletion associated with renal and orofacial malformations has not been previously described. We present a 35-year-old pregnant woman with prenatal sonographic findings of a unilateral duplex renal system, pyelectasis and orofacial clefts at 20 weeks' gestation. Both genetic amniocentesis and postnatal cytogenetic analysis revealed de novo 46,XX,del(11)(q23). After birth, the fetus manifested a dysmorphic phenotype correlated with del(11q) syndrome. Genetic marker analysis showed a paternally derived distal deletion of chromosome 11q and a breakpoint centromeric to D11S1341. The present case represents the earliest prenatal diagnosis of a duplex renal system, pyelectasis and an additional feature of orofacial clefts associated with distal 11q deletion. Prenatal sonographic detection of a duplex renal system, pyelectasis and orofacial clefts should warrant a careful assessment of fetal anatomy and prompt cytogenetic analysis looking for chromosomal aberrations.     

Long-term outcome of children born from mothers with autoimmune diseases

Autoimmune diseases often affect young women and this may represent a problem in family planning. Pregnancies in these patients may carry several complications but nowadays the continued amelioration in treatment and management has greatly improved the pregnancy outcome. The main concern of these women obviously is the short- and long-term outcome of their children. A child born from a woman with autoimmune disease is potentially exposed in utero to maternal autoantibodies, cytokines, and drugs, and each item could impair his or her development. In addition, the maternal genetic heritage can favor autoimmunity. All these items could have a role, for example, in the development of autoimmune diseases (the same as the mother or different ones) or neurological disorders. Data in literature are controversial. This review will gather the available data possibly providing a useful tool for counseling future mothers.     

Prospective neurological analysis of development of children of mothers with IDDM

Aim of the study was early diagnosis of CNS damage and dysfunction in the progeny of women with diabetes type 1 (DM1). Interdependencies between the course of diabetes in mothers and fetal-perinatal complications and neurological state of the progeny were also analysed. 35 children of mothers with DM1 and 109 in control group underwent neurological examinations at the age of 3, 6, 9, 12 and 18 months. RESULTS: In the group of children of DM1 mothers four had symptoms of CNS damage such as cerebral palsy or psychomotor delay. In the remaining 9 children so-called "soft" neurological signs or minor neurological dysfunction were found. In control group 1 had a light form of cerebral palsy and 3 had symptoms of minor neurological dysfunction. The dependencies of frequency and gravity of neurological disorders in children on diabetes metabolic control and complications and hypoxemic-ischemic states, prematurity, macrosomia and hypoglycemia in newborns was observed. CONCLUSION: The symptoms of CNS dysfunctions are more frequent and more serious in children of DM1 mothers than in control group.     

Metabolism of vitamin K dependent factors in mothers and their newborn infants

Little is known about the absorption, excretion and transplacental transport of vitamin K in the perinatal period. From this point of view, the following studies were carried out. 1) Hepaplastin tests were performed on 65 women in the last stage of pregnancy and each coagulation factor was estimated as well. 2) Correlations were made between mothers' and babies' Hepaplastin test values. 3) Transplacental transport of vitamin K2 was studied. The general activity of vitamin K dependent factors in pregnant women was much higher than in non pregnant women. As far as the correlation between mothers' venous blood during delivery and cord venous blood is concerned, in the group of mothers with Hepaplastin test value of less than 120% of the normal adult value, the value of the Hepaplastin test was less than 30% of normal adult value in the cord venous blood. We also established that vitamin K passed through the placenta but only in small qualities.     

High prevalence of vitamin D deficiency in Pakistani mothers and their newborns

Objective

To determine the prevalence of vitamin D deficiency in Pakistani parturients and their newborns and to assess the correlation between maternal and newborn serum levels of the vitamin D metabolite 25-hydroxy vitamin D3.

Methods

A prospective study of parturients presenting to the labor suite with a singleton pregnancy. Maternal and cord blood were collected for estimation of serum 25-hydroxy vitamin D3.

Results

In total, 89% of the gravidae were deficient in vitamin D (serum 25-hydroxy vitamin D3 < 30 ng/mL). There was a positive correlation between maternal and cord blood 25-hydroxy vitamin D3 levels(r = 0.68; P < 0.001). Inverse correlations were noted between cord blood 25-hydroxy vitamin D3 and a longer duration of gestation (r = − 0.33; P = 0.003) and with the newborn's birth weight (r = − 0.23; P = 0.048). Maternal 25-hydroxy vitamin D3 levels were inversely correlated with maternal mean arterial pressure (r = 0.029; P < 0.020).

Conclusion

There was a high prevalence of vitamin D deficiency in the Pakistani parturients and their newborns. There was a correlation between higher maternal vitamin D levels and lower blood pressure in the mothers.     

妊娠期血糖异常产后母儿随访分析

目的　探讨妊娠期不同程度的血糖异常者产后发生糖尿病 (DM )的高危因素和预防措施 ,以及妊娠期血糖异常对其子女的远期不良影响等。方法　对 1994～ 2 0 0 0年 196例妊娠期血糖异常者进行产后随访 ,其中50 g葡萄糖筛查阳性 (50g阳性 ) 12 3例 ,葡萄糖耐量减低 (IGT) 3 7例 ,妊娠期糖尿病 (GDM ) 3 6例。此 3组人群均进行 75g葡萄糖耐量试验 (OGTT )及血脂检测。对其子女行血糖检测及生长发育水平观察 ,包括测量头围、胸围、身高及体重等。结果　 196例随访者中发生IGT、空腹血糖异常 (IFG)、DM共 2 2例 (占 11 2 2 % ) ,其中 50g阳性、IGT、GDM者其产后平均 3年内血糖异常发生率依次为 2 43 %、2 1 62 %、3 0 56% ,后两者与 50 g阳性相比差异有显著性意义 (P <0 0 1) ,其相关因素与产妇高龄 (40 90 % )、肥胖体型 (2 1 2 7% )、孕期血糖控制不良(45 45% )、产后体重显著增加 (40 91% )有关。 14 5例随访子女中虽血糖检测未见异常 ,但发生肥胖者 16例 (占11 0 3 % ) ,且其母孕期血糖控制不良者 9例 (占 56 2 5% )。结论　GDM及IGT者产后DM发生率高 ,应引起重视。妊娠期及时有效地控制高血糖及产后继续饮食调理与加强运动疗法 ,对维护产后母儿健康有益