Prenatal diagnosis of Pallister-Killian syndrome in pregnancy with normal CVS result and abnormal ultrasound findings in the second trimester

Literature reports of placental mosaicism, including trisomy 22, were analyzed. The chance of correlation of placental aneuploidy with fetus aneuploidy, also the probability of complications in pregnancy and fetal growth restriction and postnatal patients growth in the cases of confined placental mosaicism, were demonstrated. The case of prenatal diagnosis of confined placental mosaicism of trisomy 22 with favorable outcome is presented. The necessity of cytogenic assay of amniocytes and fetal lymphocytes in the case of placental heteroploidy diagnosis was emphasized.

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Neurological manifestation in severe hypothyroidism in pregnancy

BMJ Case Reports ◽

10.1136/bcr-2020-238069 ◽

2020 ◽

Vol 13 (12) ◽

pp. e238069

Author(s):

Aparna Sharma ◽

Nilofar Noor ◽

Vatsla Dadhwal

Keyword(s):

Peripheral Neuropathy ◽

Facial Palsy ◽

Caesarean Delivery ◽

Thyroid Stimulating Hormone ◽

Neurological Manifestations ◽

Second Trimester ◽

Pituitary Hyperplasia ◽

Very High ◽

In Pregnancy

Neurological manifestations of hypothyroidism include peripheral neuropathy and pituitary hyperplasia. However, these associations are rarely encountered during pregnancy. We report a case of a known hypothyroid with very high thyroid stimulating hormone (TSH) values (512 μIU/mL) in the second trimester. At 24 weeks she developed facial palsy and pituitary hyperplasia which responded to a combination of steroids and thyroxine. She had caesarean delivery at 35 weeks and 3 days gestation in view of pre-eclampsia with severe features and was discharged on oral antihypertensives and thyroxine. On follow-up at 5 months, TSH normalised and pituitary hyperplasia showed a greater than 50% reduction in size. To our knowledge, this is the first reported case of facial palsy and pituitary hyperplasia associated with hypothyroidism during pregnancy.

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Comparison of pregnancy outcomes after second trimester amniocentesis between procedures performed by experts and non-experts

Journal of Perinatal Medicine ◽

10.1515/jpm-2020-0430 ◽

2020 ◽

Vol 0 (0) ◽

Author(s):

Tanapak Wisetmongkolchai ◽

Fuanglada Tongprasert ◽

Kasemsri Srisupundit ◽

Suchaya Luewan ◽

Kuntharee Traisrisilp ◽

...

Keyword(s):

Pregnancy Outcomes ◽

Loss Rate ◽

Fetal Loss ◽

Adverse Pregnancy Outcomes ◽

Expert Group ◽

Second Trimester ◽

Single Institution ◽

Adverse Pregnancy ◽

In Pregnancy ◽

Singleton Pregnancies

AbstractObjectivesTo compare the rate of fetal loss in pregnancy after second trimester amniocentesis between procedures performed by experts and non-experts and to assess other pregnancy complications as secondary outcomes.MethodsA retrospective cohort study was performed on singleton pregnancies that underwent mid-trimester amniocenteses in a single institution. The fetal loss rates of procedures performed by experts and non-experts were collected and analyzed. Other adverse pregnancy outcomes were also examined.ResultsIn total, 14,450 amniocenteses were performed during the study period. These included 11,357 (78.6%) procedures in the group expert operators and 3,093 (21.4%) procedures in the group non-expert operators. In the non-expert group, the fetal loss rate was slightly increased but not significantly (p=0.24).In addition, the higher number of spontaneous abortions was associated with blood-stained amniotic fluid sample (p<0.001; RR=9.28). Multiple needle insertions also increased in the non-expert group significantly. However, no difference in pregnancy outcomes was found between in single and multiple needle insertions.ConclusionsThe amniocentesis procedures performed by the non-experts was not increase the fetal loss rate. However, the other adverse pregnancy outcomes, including preterm birth, low birth weight and fetal growth restriction were significantly increased in the non-expert group.

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A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Diagnostics ◽

10.3390/diagnostics11010142 ◽

2021 ◽

Vol 11 (1) ◽

pp. 142

Author(s):

Anca Maria Panaitescu ◽

Simona Duta ◽

Nicolae Gica ◽

Radu Botezatu ◽

Florina Nedelea ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Cornelia De Lange Syndrome ◽

Facial Features ◽

Genetic Condition ◽

Case Presentation ◽

Pathogenic Variants ◽

Limb Reduction ◽

Ultrasound Findings ◽

Prenatal Management ◽

Cornelia De Lange

Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, upper limb reduction defects, hirsutism, and developmental delay. Non-classical phenotypes make this condition heterogeneous. Although CDLS is a heterogeneous clinical and genetic condition, clear diagnostic criteria have been described by specialist consensus. Many of these criteria refer to features that can be seen on prenatal ultrasound. The aim of this paper is twofold: to present the ultrasound findings in fetuses affected by CDLS syndrome; to discuss the recent advances and the limitations in the ultrasound and genetic prenatal diagnosis of CDLS. Our review aims to offer, apart from the data needed to understand the genetics and the prenatal presentation of the disease, a joint perspective of the two specialists involved in the prenatal management of this pathology: the fetal medicine specialist and the geneticist. To better illustrate the data presented, we also include a representative clinical case.

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Prenatal diagnosis of fetal aneuploidy following second-trimester abortion for fetal aneuploidy

American Journal of Obstetrics and Gynecology ◽

10.1016/j.ajog.2004.10.051 ◽

2004 ◽

Vol 191 (6) ◽

pp. S50

Author(s):

Stephen Chasen ◽

Robin B. Kalish ◽

Meruka Gupta ◽

Frank A. Chervenak

Keyword(s):

Prenatal Diagnosis ◽

Second Trimester ◽

Trimester Abortion ◽

Fetal Aneuploidy ◽

Second Trimester Abortion

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Correlation of ultrasound findings and biochemical markers in the second trimester of pregnancy in fetuses with trisomy 21

Prenatal Diagnosis ◽

10.1002/pd.278 ◽

2002 ◽

Vol 22 (3) ◽

pp. 175-182 ◽

Cited By ~ 27

Author(s):

Vivienne L. Souter ◽

David A. Nyberg ◽

Amira El-Bastawissi ◽

Arthur Zebelman ◽

Fred Luthhardt ◽

...

Keyword(s):

Biochemical Markers ◽

Trisomy 21 ◽

Second Trimester ◽

Ultrasound Findings

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Prenatal diagnosis of macrosomia in pregnancy complicated by diabetes mellitus

The Journal of Maternal-Fetal & Neonatal Medicine ◽

10.3109/14767050009020513 ◽

2000 ◽

Vol 9 (1) ◽

pp. 52-54

Author(s):

Mark B. Landon

Keyword(s):

Diabetes Mellitus ◽

Prenatal Diagnosis ◽

In Pregnancy

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Serum cystatin is not a marker of glomerular filtration rate in pregnancy

Obstetric Medicine ◽

10.1258/om.2009.090019 ◽

2009 ◽

Vol 2 (3) ◽

pp. 121-122 ◽

Cited By ~ 2

Author(s):

Kate Bramham ◽

David Makanjuola ◽

Wael Hussein ◽

Debra Cafful ◽

Hassan Shehata

Keyword(s):

Glomerular Filtration Rate ◽

Observational Study ◽

Glomerular Filtration ◽

Filtration Rate ◽

Prospective Observational Study ◽

Second Trimester ◽

Third Trimester ◽

Serum Cystatin ◽

In Pregnancy

The role of cystatin C (Cys-C) as a marker of glomerular filtration rate (GFR) in pregnancy is undetermined. Measurements of Cys-C and creatinine (Cr) were taken at 14–17+6, 18–23+6, 27–31+6 weeks' gestation, at delivery and 2–6 weeks postpartum in a prospective observational study of 27 women. There was no difference between Cys-C levels in early and late second trimester, but they were significantly higher in early third trimester ( P < 0.001) than second trimester, despite no concurrent increase in Cr. Cys-C was also significantly higher at delivery than at all other times in pregnancy ( P < 0.001) and fell to postpartum values higher than second trimester measurements ( P < 0.01), but lower than delivery ( P<0.001). In conclusion, changes in Cys-C may be influenced by pregnancy-related changes in glomerular filtration and therefore we would advise against their use as a marker of GFR in pregnancy.

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