Nikitas Mantas

Maternal serum insulin-like growth factor-I at 11-13 weeks in preeclampsia.

To investigate the maternal serum concentration of insulin‐like growth factor‐I (IGF‐I) in the first trimester of pregnancies that subsequently develop preeclampsia (PE) and to examine the possible association with uterine artery pulsatility index (PI).

Maternal serum insulin-like growth factor-binding protein-3 (IGFBP-3) at 11-13 weeks in preeclampsia.

The objective of this study was to determine if the maternal serum concentration of insulin-like growth factor-binding protein-3 (IGFBP-3) at 11–13 weeks gestation is altered in pregnancies that subsequently develop preeclampsia (PE). Maternal serum concentration of IGFBP-3, pregnancy-associated plasma protein-A (PAPP-A) and uterine artery pulsatility index (PI) were measured in 60 cases that developed PE, including 20 that developed early-PE requiring delivery before 34 weeks, and compared with 120 unaffected controls. In the unaffected pregnancies, the median multiple of the normal median (MoM) values of serum IGFBP-3, PAPP-A and uterine artery PI were 1.0 MoM. In late-PE, but not in early-PE, serum IGFBP-3 was significantly increased (1.16 and 1.06 MoM, respectively), whereas in early-PE, but not in late-PE, uterine artery PI was increased (1.41 and 1.11 MoM, respectively) and serum PAPP-A was decreased (0.53 and 0.87 MoM, respectively). In the PE group, there was no significant association between IGFBP-3 and either uterine artery PI (P=0.775) or maternal serum PAPP-A (P=0.275). First-trimester serum IGFBP-3 is increased in pregnancies that subsequently develop late-PE in a mechanism that is unrelated to impaired placentation, as reflected in uterine artery PI and serum PAPP-A.

Maternal serum placental growth hormone at 11–13 weeks’ gestation in pregnancies delivering small for gestational age neonates

Objective: To investigate whether the maternal serum concentration of human placental growth hormone (PGH) at 11–13 weeks’ gestation is altered in pregnancies that deliver small for gestational age (SGA) neonates. Methods: Maternal serum concentration of PGH was measured in 60 cases that subsequently delivered SGA neonates in the absence of preeclampsia and compared to 120 non-SGA controls. Results: In the SGA group, compared to the non-SGA group, there was no significant difference in the median PGH MoM (0.95 MoM, IQR 0.60–1.30 vs. 1.00 MoM, IQR 0.70–1.30, p = 0.97). There was no significant association between PGH MoM and birth weight percentile in either the SGA (p = 0.72) or in the non-SGA group (p = 0.63). Conclusion: Maternal serum PGH at 11–13 weeks’ gestation is unlikely to be a useful biochemical marker for early prediction of SGA.

Maternal Serum Human Placental Growth Hormone (hPGH) at 11 to 13 Weeks of Gestation in Preeclampsia

Objective. Human placental growth hormone (hPGH) is produced by human placenta and plays a central role in the maternal metabolic adjustments to pregnancy. The objective of this study was to investigate the maternal serum concentration of hPGH at 11–13 weeks of gestation in pregnancies that subsequently developed preeclampsia (PE), and to examine the possible association with uterine artery pulsatility index (PI) and maternal serum pregnancy-associated plasma protein-A (PAPP-A). Methods. The maternal serum concentration of hPGH at 11–13 weeks was measured in a case–control study from 60 cases that developed PE and 120 unaffected controls. The measured hPGH concentration was converted into a multiple of the expected median (MoM) in unaffected pregnancies. Regression analysis was used to determine the significance of association between hPGH MoM with uterine artery PI MoM and PAPP-A MoM. Results. In the pregnancies that subsequently developed PE the median serum hPGH concentration was not significantly different from that in the unaffected group (0.92 versus 1.00 MoM), whereas uterine artery PI was increased (1.31 versus 1.01 MoM) and serum PAPP-A was decreased (0.76 versus 1.01 MoM). In the group that developed PE there was no significant association between serum hPGH MoM and gestational age at delivery, uterine artery PI MoM, or serum PAPP-A MoM. Conclusion. The finding that in the PE group serum hPGH level during the first trimester is normal suggests that it is unlikely that this hormone plays a role in the pathogenesis of PE.

Pancreatic aplasia in a fetus with asplenia‐cardiovascular defect‐heterotaxy (Ivemark syndrome)

BACKGROUND Asplenia or polysplenia and complex cardiovascular defects, in association with disturbed body symmetry and malposition of internal organs, constitute the main corpus of malformations in the heterogeneous group of heterotaxy disorders. In affected pregnancies, prenatal diagnosis is possible by ultrasonography, while prognosis and counseling largely depend upon the severity of the cardiac defect. CASE We present a 25 week gestation fetus with typical findings of asplenia-cardiovascular defect-heterotaxy (Ivemark syndrome) and aplasia of the pancreas. CONCLUSIONS Pancreatic aplasia emerges as an additional phenotypic feature in Ivemark syndrome and raises the possibility of total pancreatic insufficiency of the affected neonate as an additional, although rare, clinical consideration.

Maternal serum IGF-I, IGFBP-1 and IGFBP-3 at 11-13 weeks in trisomy 21 and trisomy 18 pregnancies.

OBJECTIVE To investigate the possible value of maternal serum concentration of insulin-like growth factor-I (IGF-I), IGF binding protein-1 (IGFBP-1) and IGFBP-3 in first-trimester screening for fetal aneuploidies. STUDY DESIGN Maternal serum concentrations of IGF-I, IGFBP-1 and IGFBP-3 at 11-13 weeks of gestation were measured and compared in 30 trisomy 21, 30 trisomy 18 and 120 euploid pregnancies. RESULTS The median multiple of the normal median (MoM) values of maternal serum IGF-I, IGFBP-1 and IGFBP-3 in trisomy 21, trisomy 18 and euploid pregnancies were not significantly different (IGF-I: 1.10, 1.14 and 1.0 MoM, respectively; IGFBP-1: 1.10, 1.01 and 1.0 MoM; IGFBP-3: 0.90, 1.16 and 0.98 MoM). CONCLUSION Measurement of maternal serum IGF-I, IGFBP-1 and IGFBP-3 at 11-13 weeks of gestation is unlikely to be useful in screening for trisomies 21 and 18.

Antenatal diagnosis of duodenal atresia in dizygotic twins associated with congenital hearing impairment

Duodenal atresia (DA) is the most common type of congenital small bowel obstruction. Reported incidence rates range from 1 to 1.4 per 10,000 live births [1]. The prenatal diagnosis of DA usually occurs during the second trimester, when a typical ‘‘double-bubble’’ is observed at ultrasound. DA is not usually regarded as a familial condition despite isolated reports of DA in multiple siblings [2]. We report a rare case of DA diagnosed antenatally in twins, with congenital deafness diagnosed postnatally in both of the dizygotic twins, and analyze the implications of these rare findings. A 27-year-old pregnant woman, gravida 1, with twin pregnancy achieved after in vitro fertilization treatment, was referred to our Department due to preterm prelabor rupture of membranes at 30 weeks’ gestation. Antenatal ultrasound scans at 13 and 21 weeks of gestation in a local hospital showed a dichorionic twin pregnancy and did not reveal any fetal abnormalities. A ‘‘double-bubble’’ in both fetuses was detected sonographically at the 28th week of pregnancy, and an amniocentesis was carried out revealing a normal karyotype (46,XX) of both twins. The dizygotic status of the twin pregnancy was determined by the use of highly polymorphic DNA markers by PCR amplification of DNA extracted from amniotic fluid (QF-PCR). Fetal sonography in our Department confirmed ‘‘double-bubble’’ in both fetuses (Figure 1), and showed oligohydramnios in the fetus with the ruptured membranes and polyhydramnios in the other twin. The growth of the fetuses was at 53rd and at 15th centile correspondingly. The family history showed a non-consanguineous marriage with no similar defect in any family member. The mother had developed partial hearing impairment in early childhood, suggested to be due to ototoxic medication. She was not exposed to known teratogenic factors, nor smoking and she was not on any medication or drugs during pregnancy. The father was deaf since birth but otherwise healthy. The mother was admitted to caesarean section at 33 weeks due to chorioamnionitis and breech presentation of the first twin. The neonates weighed 1200 and 1600 g, the first twin being small-for-gestational-age. Histological examination of the placentas confirmed the dichorionicity of the pregnancy. A laparotomy was performed in both twins during the second day of life. Both of them had atresia of the first and third portion of the duodenum, respectively, and direct end-to-end duodeno-ileal anastomosis was carried out. Their postoperative course was uneventful, and both babies were discharged 40 days after birth. Audiologic evaluation during the first year of life revealed congenital deafness in both babies. The 21month-old children did not demonstrate evidence of developmental delay at follow-up examination. DNA analysis by direct sequencing of the GJB2 gene [3] revealed that both twins were compound heterozygous for the mutations 35delG and 333-334delAA. The mother was homozygous for the 35delG mutation, and the father was homozygous for the 333334delAA mutation of the GJB2 gene. The molecular analysis thus explained the hearing loss in all four members of the family. Duodenal obstruction is traditionally recognized as a sporadic developmental anomaly and not a genetic condition. Figure 1. Sonographic image of duodenal atresia in one of the dizygotic twins at 30 weeks’ gestation.