Characterization of pregnancy outcome of women with an offspring with inborn errors of metabolism: A population-based study.

Introduction: Inborn errors of metabolism (IEM) are scarce, and their diagnosis is often made after birth. This has led to the perception that most fetuses affected by these disorders do not become clinically apparent during pregnancy. Our aim was to determine the obstetrical characteristics of women with an offspring affected by IEM. Methods: This population-based retrospective cohort study included all women who delivered at the Soroka University Medical Center (SUMC) from 1988 to 2017 who met the inclusion criteria. Mothers who had an offspring with IEM were included in the study group, and those who had offsprings without IEM comprised the comparison group. Results: A total of 388,813 pregnancies were included in the study, and 184 of them were complicated by a fetus with IEM. The number of Bedouin women was higher in the IEM-affected infant group than in the comparison group (90.8% vs. 53.3%, p < 0.001); women who had a fetus with IEM had a higher rate of polyhydramnios (7.1% vs. 3.2%, p = 0.005), HELLP syndrome (3.3% vs. 1.1%, p = 0.014), and preterm birth (20.7% vs. 10.1%, p < 0.001); neonates with IEM had lower mean birth weight (p < 0.001), lower Apgar scores at 1' and 5' minutes (p < 0.001), and a higher rate of fetal growth restriction (FGR) (p < 0.001), postpartum death <28 days (p < 0.001), and neonatal death (p < 0.001) than those in the comparison group. Pregnancies with IEM fetuses were independently associated with preterm birth (OR 2.00; CI 1.4-3), polyhydramnios (OR 2.08; CI 1.17-3.71), and FGR (OR 2.24; CI 1.2-4.19). Each family of metabolic diseases is independently associated with specific pregnancy complications (i.e., mitochondrial diseases are associated with HELLP syndrome (OR 5.6; CI 1.8-17), and lysosomal storage disease are associated with nonimmune hydrops fetalis (OR 26.4; CI 3.39-206). Conclusion: This study reports for the first time, an independent association of IEM with specific complications of pregnancy. This observation has clinical implications, as the identification of specific pregnancy complications in a population at risk for IEM can assist in the prenatal diagnosis of an affected fetus.

Quantifying the additional maternal morbidity in women with preeclampsia with severe features in whom immediate delivery is recommended.

BACKGROUND: Preeclampsia with severe features when diagnosed at less than 34 weeks is associated with maternal morbidity and is managed by immediate delivery or inpatient expectant management. OBJECTIVE: This study aimed to compare maternal morbidity in women with preeclampsia with severe features in whom the American College of Obstetricians and Gynecologists recommends immediate delivery versus those eligible for expectant management. STUDY DESIGN: This was a retrospective cohort study of women with preeclampsia with severe features delivered between 23 to 34 weeks of gestation from 2013 to 2017 at a single tertiary center. Women were categorized into 2 groups: (1) those recommended by the American College of Obstetricians and Gynecologists for immediate delivery, that is, ineligible for expectant management, and (2) those eligible for expectant management. The primary outcome was composite postpartum maternal morbidity, which included maternal intensive care unit admission, stroke, death, and other severe morbidities. The secondary outcomes included select adverse perinatal outcomes. Groups were compared and adjusted odds ratios (95% confidence intervals) calculated. RESULTS: Of the 1172 women with preeclampsia identified during the study period, 543 with preeclampsia with severe features were included for analysis: 211 (39%) were ineligible for expectant management and 332 (61%) were eligible for expectant management. Baseline characteristics, including age, body mass index, race and ethnicity, parity, marital status, and gestational age at preeclampsia diagnosis, were similar between the 2 groups. Women ineligible for expectant management had significantly higher composite postpartum maternal morbidity (adjusted odds ratio, 5.02 [95% confidence interval, 1.35-18.69]). In addition, those ineligible for expectant management were more likely to have postpartum intensive care unit admission (adjusted odds ratio, 4.19 [95% confidence interval, 1.09-16.16]) and postpartum hemoglobin level of <7 g/dL (adjusted odds ratio, 5.07 [95% confidence interval, 1.35-19.08]). There was no demonstrable difference in neonatal outcomes between the 2 groups. CONCLUSION: Women with preeclampsia with severe features who were ineligible for expectant management per the American College of Obstetricians and Gynecologists guidelines had a 5-fold increased risk of maternal morbidity, confirming the need for escalation of care and delivery without delay.

[Singleton and twin pregnancies of PKU patients - individual variability of phenylalanine tolerance: experience of a single treatment center (Preliminary report)].

Phenylketonuria (PKU) is the autosomal recessive deficiency of phenylalanine hydroxylase resulting in the accumulation of phenylalanine (Phe) in blood and in the brain. Phe restriction in a patient's diet is determined depending on the amount of Phe intake which allows for stable blood Phe levels within the therapeutic range of 120-360µmol/L. In clinical practice the empirical determination of Phe tolerance relies on frequent assessment of blood Phe concentrations in relation to Phe intake from food records. Untreated maternal PKU may lead to maternal PKU syndrome in offspring. The objective of the study was to compare Phe tolerance during the course of singleton and multiple pregnancies of PKU patients. Case subjects and methods: The cases reviewed included three sets of classical PKU-affected Polish women on a low-phenylalanine diet during the course of singleton and twin pregnancies and their PKU-unaffected newborns. All the patients were under regular supervision of a metabolic dietitian to stabilize blood Phe levels and determine Phe tolerance. Data on pregnancy weight gain, the gestational age when the diet initiated, the percent of Phe assessments < 120 µmol/L and > 360 µmol/L, as well as offspring birth measurements were analyzed. RESULTS: The total increase in Phe tolerance and its pattern during the course of singleton and twin pregnancies differed remarkably in each patient. Three PKU women (Q383X/R408W, EX3DEL/EX3DEL, R281L/R408W) increased their Phe tolerance in singleton and twin pregnancies by 579%/468%, 674%/261%, and 427%/236%, respectively. During the last 10 weeks of singleton and twin pregnancy Phe tolerance showed an increase by 62%/149%, 33%/64%, and 37%/40%, respectively. The analysis of predictors for Phe tolerance showed that an individual's weight gain and the fetal weight gain as estimated from liveborn birth-weight data had no predictive capacity. CONCLUSIONS: Individual Phe tolerance in singleton pregnancies of PKU patients does not predict tolerance in twin pregnancy. Further research on the growing population of multiple pregnancy PKU patients is necessary to provide evidence-based guidelines to optimize the treatment of PKU in females of childbearing age.

A study on pregnant adolescents residing in a government home: common characteristics and their views on the pregnancy

Background: Adolescent pregnancy has emerged to be a significant public health and social issue in Malaysia as its prevalence is increasing in our population. Objectives: This study aimed to identify the common characteristics of pregnant adolescents residing in a government shelter home. Their reasons for pregnancy, sources of information on contraception, and views on abortion and future care of the baby were explored. Methods: A cross-sectional study was performed on 26 universally sampled pregnant adolescents in the centre. The adolescents responded to a set of self-administered questionnaire on their socio-demographic profiles, reasons of their pregnancy, contraception and future plans including abortion as well as care of the newborn. Results: Almost all (92%) of the adolescents were unmarried. Majority of them were in late adolescence, age between 16 to 19 years (73.1%), from urban areas (73.1%) and of low income families (53.8%). There were 69.3% of the adolescents who were school dropouts. The reasons for pregnancy were consensual sexual activity (63.0%), coercion by boyfriend (18.5%), and rape (11.5%). The main sources of information on contraception were friends (50%), partners (50%) and the internet or mass media (42.3%). 54% had considered abortion earlier, but majority (92.0%) disagreed that abortion should be legalised in Malaysia. Most of the adolescents planned to parent their child with or without help from significant others and only 42.3% planned to relinquish their child for adoption. Conclusion: To curb teenage pregnancy-related problems, efforts on educating the adolescents about sexual reproductive health and assertive communication skills should be implemented, especially to the late adolescents, school dropouts and those from poor urban families. Parenthood support may be necessary to the pregnant adolescents who opted to care for their own child.