Megacystis in the first trimester of pregnancy: Prognostic factors and perinatal outcomes

Objective To determine whether bladder size is associated with an unfavorable neonatal outcome, in the case of first-trimester megacystis. Materials and methods This was a retrospective observational study between 2009 and 2019 in two prenatal diagnosis centers. The inclusion criterion was an enlarged bladder (> 7 mm) diagnosed at the first ultrasound exam between 11 and 13+6 weeks of gestation. The main study endpoint was neonatal outcome based on bladder size. An adverse outcome was defined by the completion of a medical termination of pregnancy, the occurrence of in utero fetal death, or a neonatal death. Neonatal survival was considered as a favorable outcome and was defined by a live birth, with or without normal renal function, and with a normal karyotype. Results Among 75 cases of first-trimester megacystis referred to prenatal diagnosis centers and included, there were 63 (84%) adverse outcomes and 12 (16%) live births. Fetuses with a bladder diameter of less than 12.5 mm may have a favorable outcome, with or without urological problems, with a high sensitivity (83.3%) and specificity (87.3%), area under the ROC curve = 0.93, 95% CI (0.86–0.99), p< 0.001. Fetal autopsy was performed in 52 (82.5%) cases of adverse outcome. In the 12 cases of favorable outcome, pediatric follow-up was normal and non-pathological in 8 (66.7%). Conclusion Bladder diameter appears to be a predictive marker for neonatal outcome. Fetuses with smaller megacystis (7–10 mm) have a significantly higher chance of progressing to a favorable outcome. Urethral stenosis and atresia are the main diagnoses made when first-trimester megacystis is observed. Karyotyping is important regardless of bladder diameter.

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Isolated Increased Nuchal Translucency in First Trimester Ultrasound Scan: Diagnostic Yield of Prenatal Microarray and Outcome of Pregnancy

Frontiers in Medicine ◽

10.3389/fmed.2021.737936 ◽

2021 ◽

Vol 8 ◽

Author(s):

Kyra E. Stuurman ◽

Marjolein H. van der Mespel-Brouwer ◽

Melanie A. J. Engels ◽

Mariet W. Elting ◽

Shama L. Bhola ◽

...

Keyword(s):

Diagnostic Yield ◽

Normal Karyotype ◽

First Trimester ◽

Nuchal Translucency ◽

Adverse Outcomes ◽

Genetic Syndromes ◽

Postnatal Outcome ◽

First Trimester Ultrasound ◽

Increased Nuchal Translucency

Background: Increased nuchal translucency (NT) is associated with aneuploidy. When the karyotype is normal, fetuses are still at risk for structural anomalies and genetic syndromes. Our study researched the diagnostic yield of prenatal microarray in a cohort of fetuses with isolated increased NT (defined as NT ≥ 3.5 mm) and questioned whether prenatal microarray is a useful tool in determining the adverse outcomes of the pregnancy.Materials and Methods: A prospective study was performed, in which 166 women, pregnant with a fetus with isolated increased NT (ranging from 3.5 to 14.3 mm with a mean of 5.4 mm) were offered karyotyping and subsequent prenatal microarray when karyotype was normal. Additionally, all ongoing pregnancies of fetuses with normal karyotype were followed up with regard to postnatal outcome. The follow-up time after birth was maximally 4 years.Results: Totally, 149 of 166 women opted for prenatal testing. Seventy-seven fetuses showed normal karyotype (52%). Totally, 73 of 77 fetuses with normal karyotype did not show additional anomalies on an early first trimester ultrasound. Totally, 40 of 73 fetuses received prenatal microarray of whom 3 fetuses had an abnormal microarray result: two pathogenic findings (2/40) and one incidental carrier finding. In 73 fetuses with an isolated increased NT, 21 pregnancies showed abnormal postnatal outcome (21/73, 28.8%), 29 had a normal outcome (29/73, 40%), and 23 were lost to follow-up (23/73, 31.5%). Seven out of 73 live-born children showed an adverse outcome (9.6%).Conclusions: Prenatal microarray in fetuses with isolated increased NT had a 5% (2/40) increased diagnostic yield compared to conventional karyotyping. Even with a normal microarray, fetuses with an isolated increased NT had a 28.8% risk of either pregnancy loss or an affected child.

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Prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable outcome

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2021.09.026 ◽

2021 ◽

Vol 60 (6) ◽

pp. 1107-1111

Author(s):

Chih-Ping Chen ◽

Fei-Hua Lan ◽

Schu-Rern Chern ◽

Peih-Shan Wu ◽

Shin-Wen Chen ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Intrauterine Growth Restriction ◽

First Trimester ◽

Growth Restriction ◽

Favorable Outcome ◽

First Trimester Screening ◽

Intrauterine Growth ◽

Trimester Screening ◽

Screening Result ◽

Mosaic Trisomy

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The secrets of placental mosaicism: clinical observation of the full form of confined placental trisomy 22 and literature review

10.21516/2413-1458-2020-19-1-35-40 ◽

2020 ◽

Author(s):

I.V. Komarova, A.A. Nikiforenko, A.V. Fedunyak

Keyword(s):

Prenatal Diagnosis ◽

Literature Review ◽

Fetal Growth ◽

Fetal Growth Restriction ◽

Clinical Observation ◽

Growth Restriction ◽

Favorable Outcome ◽

Full Form ◽

Placental Mosaicism ◽

In Pregnancy

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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Maternal Vitamin D and Newborn Telomere Length

Nutrients ◽

10.3390/nu13062012 ◽

2021 ◽

Vol 13 (6) ◽

pp. 2012

Author(s):

Lisa Daneels ◽

Dries S. Martens ◽

Soumia Arredouani ◽

Jaak Billen ◽

Gudrun Koppen ◽

...

Keyword(s):

Vitamin D ◽

Cord Blood ◽

Telomere Length ◽

First Trimester ◽

Maternal Serum ◽

Adverse Outcomes ◽

Dietary Vitamin ◽

Maternal Vitamin ◽

Vitamin D Intake ◽

Diet Supplements

Nutrition is important during pregnancy for offspring health. Gestational vitamin D intake may prevent several adverse outcomes and might have an influence on offspring telomere length (TL). In this study, we want to assess the association between maternal vitamin D intake during pregnancy and newborn TL, as reflected by cord blood TL. We studied mother–child pairs enrolled in the Maternal Nutrition and Offspring’s Epigenome (MANOE) cohort, Leuven, Belgium. To calculate the dietary vitamin D intake, 108 women were asked to keep track of their diet using the seven-day estimated diet record (EDR) method. TL was assessed in 108 cord blood using a quantitative real-time PCR method. In each trimester of pregnancy, maternal serum 25-hydroxyvitamin D (25-OHD) concentration was measured. We observed a positive association (β = 0.009, p-value = 0.036) between newborn average relative TL and maternal vitamin D intake (diet + supplement) during the first trimester. In contrast, we found no association between average relative TL of the newborn and mean maternal serum 25-OHD concentrations during pregnancy. To conclude, vitamin D intake (diet + supplements), specifically during the first trimester of pregnancy, is an important factor associated with TL at birth.

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Prenatal Diagnosis of Double Trisomy 48,XXX,+18 in the First Trimester

Journal of Ultrasound in Medicine ◽

10.7863/jum.2005.24.5.717 ◽

2005 ◽

Vol 24 (5) ◽

pp. 717-719 ◽

Cited By ~ 7

Author(s):

Victor Dezerega ◽

Cecilia Be ◽

Amy E. Wong ◽

Rafael Silva ◽

Waldo Sepulveda

Keyword(s):

Prenatal Diagnosis ◽

First Trimester ◽

Double Trisomy

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Prenatal diagnosis of spina bifida aperta after first-trimester valproate exposure

Prenatal Diagnosis ◽

10.1002/pd.1970121107 ◽

1992 ◽

Vol 12 (11) ◽

pp. 893-897 ◽

Cited By ~ 29

Author(s):

Juliette G. C. Omtzigt ◽

Frans J. Los ◽

Adriana M. Hagenaars ◽

Patricia A. Stewart ◽

Eva S. Sachs ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Spina Bifida ◽

First Trimester ◽

Spina Bifida Aperta

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FEASIBILITY OF FIRST TRIMESTER PRENATAL DIAGNOSIS OF HUNTER SYNDROME

The Lancet ◽

10.1016/s0140-6736(83)90665-7 ◽

1983 ◽

Vol 322 (8359) ◽

pp. 1147 ◽

Cited By ~ 17

Author(s):

C. Lykkelund ◽

F. Søndergaard ◽

A.J. Therkelsen ◽

T. Tønnesen ◽

V. Rasmussen ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Hunter Syndrome ◽

First Trimester

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Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: Experience using first-trimester chorionic villus sampling

Prenatal Diagnosis ◽

10.1002/pd.1970140503 ◽

1994 ◽

Vol 14 (5) ◽

pp. 333-336 ◽

Cited By ~ 10

Author(s):

Ernst Christensen

Keyword(s):

Prenatal Diagnosis ◽

Dehydrogenase Deficiency ◽

Chorionic Villus ◽

First Trimester ◽

Chorionic Villus Sampling

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Chorionic villus sampling: First trimester prenatal diagnosis

The Indian Journal of Pediatrics ◽

10.1007/bf02748570 ◽

1986 ◽

Vol 53 (6) ◽

pp. 747-759 ◽

Cited By ~ 1

Author(s):

Allan T. Bombard ◽

Joe Leigh Simpson ◽

Sherman Elias ◽

Alice O. Martin

Keyword(s):

Prenatal Diagnosis ◽

Chorionic Villus ◽

First Trimester ◽

Chorionic Villus Sampling

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Prolonged Emergency Department Length of Stay as a Predictor of Adverse Outcomes in Patients with Intracranial Hemorrhage

Journal of Critical Care Medicine ◽

10.1155/2015/526319 ◽

2015 ◽

Vol 2015 ◽

pp. 1-5 ◽

Cited By ~ 5

Author(s):

Erica M. Jones ◽

Amelia K. Boehme ◽

Aimee Aysenne ◽

Tiffany Chang ◽

Karen C. Albright ◽

...

Keyword(s):

Emergency Department ◽

Length Of Stay ◽

Adverse Outcome ◽

Independent Predictor ◽

Adverse Outcomes ◽

Stroke Patients ◽

Significant Independent Predictor ◽

Prolonged Length ◽

Stroke Center ◽

Shift Change

Objectives. Extended time in the emergency department (ED) has been related to adverse outcomes among stroke patients. We examined the associations of ED nursing shift change (SC) and length of stay in the ED with outcomes in patients with intracerebral hemorrhage (ICH). Methods. Data were collected on all spontaneous ICH patients admitted to our stroke center from 7/1/08–6/30/12. Outcomes (frequency of pneumonia, modified Rankin Scale (mRS) score at discharge, NIHSS score at discharge, and mortality rate) were compared based on shift change experience and length of stay (LOS) dichotomized at 5 hours after arrival. Results. Of the 162 patients included, 60 (37.0%) were present in the ED during a SC. The frequency of pneumonia was similar in the two groups. Exposure to an ED SC was not a significant independent predictor of any outcome. LOS in the ED ≥5 hours was a significant independent predictor of discharge mRS 4–6 (OR 3.638, 95% CI 1.531–8.645, and P = 0.0034) and discharge NIHSS (OR 3.049, 95% CI 1.491–6.236, and P = 0.0023) but not death. Conclusions. Our study found no association between nursing SC and adverse outcome in patients with ICH but confirms the prior finding of worsened outcome after prolonged length of stay in the ED.

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