Objective. DHA supplementation was compared to nutrition education to increase DHA consumption from fish and DHA fortified foods. Design. This two-part intervention included a randomized double-blind placebo controlled DHA supplementation arm and a nutrition education arm designed to increase intake of DHA from dietary sources by 300 mg per day. Setting. Denver Health Hospitals and Clinics, Denver, Colorado, USA. Population. 871 pregnant women aged 18–40 were recruited between16 and 20 weeks of gestation of whom 564 completed the study and complete delivery data was available in 505 women and infants. Methods. Subjects received either 300 or 600 mg DHA or olive oil placebo or nutrition education. Main Outcome Variable. Gestational length. Results. Gestational length was significantly increased by 4.0–4.5 days in women supplemented with 600 mg DHA per day or provided with nutrition education. Each 1% increase in RBC DHA at delivery was associated with a 1.6-day increase in gestational length. No significant effects on birth weight, birth length, or head circumference were demonstrated. The rate of early preterm birth (1.7%) in those supplemented with DHA (combined 300 and 600 mg/day) was significantly lower than in controls. Conclusion. Nutrition education or supplementation with DHA can be effective in increasing gestational length.
The process of prenatal diagnosis is unique in that the diagnosis and prognosis are made without seeing the patient. 45,X/46,XY mosaicism presents a special problem in this regard. The phenotype of 45,X/46,XY postnatally diagnosed children (pediatric group) was compared to that of 6 fetuses who were diagnosed from 7,000 amniocenteses (prenatal group). These amniocenteses were performed primarily because of an increased risk of chromosome abnormality. The pediatric group (age birth-18 yr) were all phenotypically abnormal, although none were mentally retarded. Seven patients presented with ambiguous genitalia, while 2 had primary amenorrhea. Sexual assignment was changed in 2. Abnormalities included rudimentary phallus, urogenital sinus, hypospadias, undescended testes, and short stature. All 9 patients required at least one surgical procedure. In contrast, the prenatally diagnosed fetuses (ages 3 months to 3 1/2 yr) were all phenotypically normal males. Four were noted to have male genitalia on ultrasonography. Thus, the phenotype of 45,X/46,XY mosaicism in prenatally diagnosed fetuses can be markedly different from that of individuals diagnosed postnatally. This must be considered when counseling patients.
Agnathia-otocephaly is a rare, predominantly sporadic malformation complex of the first pharyngeal arch occurring during facial development between the fourth and eighth weeks of gestation. 1 The defining characteristics of this complex malformation sequence are the absence of the mandible (agnathia) or severe mandibular hypoplasia, microstomia, absence or underdevelopment of the tongue, and variable displacement of the ears towards the midline. However, this malformation can also present in association with diverse anomalies of varying severity, including visceral situs abnormalities and central nervous system defects, most prominently holoprosencephaly. Agnathia-otocephaly is most often lethal, because respiratory failure develops shortly after birth secondary to airway obstruction. 2 The incidence of agnathia-otocephaly has been reported to be less than 1 in 70 000 births. Its etiologies are poorly understood, with potential genetic and teratogenic causes proposed. 1,2 However, there are accumulating case reports of prenatal diagnosis of this disorder with the use of threedimensional (3D) ultrasound. [3][4][5] In addition, screening of a panel of candidate genes involved in mandibular-facial development has implicated loss-of-function mutations in the PRRX1 gene in two cases of agnathia-otocephaly. 6,7 Here, we report a case of fetal agnathia-otocephaly diagnosed by third trimester prenatal ultrasound in a pregnancy presenting with polyhydramnios. Subsequent DNA sequencing of this infant revealed a novel, heterozygous frameshift loss-of-function mutation in the PRRX1 gene.The mother of the case initially presented to rule out preterm labor at 28 weeks. She and the father of the infant were both healthy with no significant past medical history, drug or environmental exposures, and were nonconsanguineous, without family histories of congenital anomalies. The pregnancy was reported to have been uncomplicated up to this point, with a normal routine anatomy ultrasound performed at 20 weeks' gestation.On our evaluation, the patient was discovered to have polyhydramnios, but a detailed ultrasound failed to identify any fetal anatomic abnormalities, although visualization was suboptimal secondary to fetal position. Further workup for potential etiologies of polyhydramnios, including maternal diabetes and congenital infection, were negative. The fetal karyotype was normal 46, XX.The patient returned to the hospital at 33 weeks' gestation with complaints of leakage of fluid. Her polyhydramnios had worsened with an amniotic fluid index of 49. A repeat ultrasound after an amnioreduction revealed extensive anomalies of the fetal face. Two-dimensional and 3D imaging revealed severe hypoplasia versus absence of the mandible, microstomia, down-slanting palpebral fissures, hypoplastic low set ears, and a broad nose (Figure 1).Shortly after these findings were discovered, the patient began to labor. Delivery was performed in the operating room with a pediatric otolaryncology team present to handle airway difficulties expected t...
45,X/47,XYY mosaicism is a rare chromosomal disorder with clinical information limited to 11 postnatal cases in the literature and with uncertainty regarding prenatal prediction of phenotype and prognosis. We report on 7 new cases of 45,X/47,XYY mosaicism, three detected prenatally and 4 diagnosed postnatally. A clinical comparison of the cases of 45,X/47,XYY mosaicism is presented together with a literature review.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.