Hyperglycemia and Adverse Pregnancy Outcomes

Objective To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 and sex chromosome aneuploidies. Methods Searches of PubMed, EMBASE and The Cochrane Library were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between January 2011, when the first such study was published, and 4 January 2015. Results In total, 37 relevant studies were identified and these were used for the meta-analysis on the performance of cfDNA testing in screening for aneuploidies. These studies reported cfDNA results in relation to fetal karyotype from invasive testing or clinical outcome. Weighted pooled detection rates (DR) and false-positive rates (FPR) in singleton pregnancies were 99.2% (95% CI, 98.5–99.6%) and 0.09% (95% CI, 0.05–0.14%), respectively, for trisomy 21, 96.3% (95% CI, 94.3–97.9%) and 0.13% (95% CI, 0.07–0.20) for trisomy 18, 91.0% (95% CI, 85.0–95.6%) and 0.13% (95% CI, 0.05–0.26%) for trisomy 13, 90.3% (95% CI, 85.7–94.2%) and 0.23% (95% CI, 0.14–0.34%) for monosomy X and 93.0% (95% CI, 85.8–97.8%) and 0.14% (95% CI, 0.06–0.24%) for sex chromosome aneuploidies other than monosomy X. For twin pregnancies, the DR for trisomy 21 was 93.7% (95% CI, 83.6–99.2%) and the FPR was 0.23% (95% CI, 0.00–0.92%). Conclusion Screening for trisomy 21 by analysis of cfDNA in maternal blood is superior to that of all other traditional methods of screening, with higher DR and lower FPR. The performance of screening for trisomies 18 and 13 and sex chromosome aneuploidies is considerably worse than that for trisomy 21. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/uog.17484

Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysis

Effective screening for major aneuploidies can be provided in the first trimester of pregnancy. Screening by a combination of fetal nuchal translucency and maternal serum free-β-human chorionic gonadotrophin and pregnancy-associated plasma protein-A can identify about 90% of fetuses with trisomy 21 and other major aneuploidies for a false-positive rate of 5%. Improvement in the performance of first-trimester screening can be achieved by firstly, inclusion in the ultrasound examination assessment of the nasal bone and flow in the ductus venosus, hepatic artery and across the tricuspid valve, and secondly, carrying out the biochemical test at 9 to 10 weeks and the ultrasound scan at 12 weeks.

https://obgyn.onlinelibrary.wiley.com/doi/epdf/10.1002/pd.2637

Screening for fetal aneuploidies at 11 to 13 weeks

To review clinical validation or implementation studies of maternal blood cell‐free (cf) DNA analysis and define the performance of screening for fetal trisomies 21, 18 and 13 and sex chromosome aneuploidies (SCA).

Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis: Cell-free DNA in screening for aneuploidies

The International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) is a scientific organization that encourages sound clinical practice, and high quality teaching and research related to diagnostic imaging in women's healthcare. The ISUOG Clinical Standards Com mittee (CSC) has a remit to develop Practice Gui delines and Consensus Statements as educational recommendations that provide healthcare practit ioners with a consensus based approach, from experts, for diagnostic imaging. They are intended to reflect what is considered by ISUOG to be the best practice at the time at which they are issued. Although ISUOG has made every effort to ensure that Guidelines are accurate when issued, neither the Society nor any of its employees or members accepts any liability for the consequences of any inaccurate or misleading data, opinions or state ments issued by the CSC. The ISUOG CSC docu ments are not intended to establish a legal stan dard of care because interpretation of the eviden ce that underpins the Guidelines may be influen ced by individual circumstances, local protocol and available resources. Approved Guidelines can be distributed freely with the permission of ISUOG (info@isuog.org).

https://obgyn.onlinelibrary.wiley.com/doi/epdf/10.1002/uog.15821

ISUOG Practice Guidelines: role of ultrasound in twin pregnancy.

Aim: The aim was to assess the onset and the frequencies of the first intertwin contacts by four-dimensional ultrasound (4D US) in the 1st trimester of pregnancy. In the second part of the study, fetal behavior and Kurjak Antenatal Neurodevelopmental Test (KANET) score of twins compared to singletons in the 2nd and the 3rd trimesters was assessed.Patients and methods: Transvaginal 4D assessment was performed in 20 women in the 1st trimester between 56 and 69 postmenstrual days (PMD), while trans-abdominal approach was performed from 70 PMD onwards and at weekly intervals until 112 PMD. Fetal behavior was assessed by 4D UD US between 28 and 36 gestational weeks in 49 twin pregnancies.Results: The first intertwin contacts appeared at 61 PMD, while complex body movements appeared at 68 PMD. The complexity of intertwin contacts increased from 84 PMD. With increasing gestational age, a higher frequency of movements was observed. The number of abnormal, borderline, and normal KANET scores between single...

The study of fetal neurobehavior in twins in all three trimesters of pregnancy

Aim
This article is a systematic review of the literature to establish the detection rate and false-positive rate of the combined test for the screening of trisomy 21 in twins.

Material and methods
We conducted a literature search (MEDLINE, EMBASE and ScienceDirect and Cochrane) to identify studies between 1995 and 2013 that provided data on the combined test in twins. Selected studies included data on maternal age, number of fetuses affected by Down syndrome, test strategy, sensitivity and specificity of the test.

Results
The combined test in twins had a pooled sensitivity of 0.893 [95% confidence interval (CI) 0.797–0.947] and a pooled specificity of 0.946 (95% CI 0.933–0.957). The performance of the test was good (summary receiver operating characteristic area under the curve: 0.817). In dichorionic twins, sensitivity and specificity were 0.862 (95% CI 0.728–0.936) and 0.952 (95% CI 0.942–0.96), respectively. In monochorionic twins, the sensitivity and specificity were 0.874% (95% CI 0.526–0.977) and 0.954% (95% CI 0.943–0.963), respectively.

Conclusions
The results of this meta-analysis show that the accumulative evidence on the performance of the combined test in twin pregnancies is good. Nowadays, it seems to be the best first-trimester screening test available for twin pregnancies. © 2014 John Wiley & Sons, Ltd.

Systematic review of screening for trisomy 21 in twin pregnancies in first trimester combining nuchal translucency and biochemical markers: a meta-analysis

Objective

The aim of this study was to evaluate the ultrasound (US)/autopsy concordance in elective termination of pregnancies (TOP) due to fetal causes.



Methods

We performed a retrospective evaluation of elective TOP from 2004 to 2012. Inclusion criteria were gestational age at termination <24 weeks, fetal pathology and availability of US/autopsy data. Based on the US–autopsy concordance, cases were divided into four groups: Group 1: agreement; Group 2: autopsy confirmed all US findings but provided additional information; Group 3: autopsy didn't confirm all US findings; Group 4: disagreement.



Results

One hundred and fifty-one patients fulfilled the inclusion criteria during the study period. Central nervous system malformations (91.5%), cardiovascular anomalies (90.2%) and renal system malformations (91.3%) were confirmed by autopsy. We found less concordance in the abdominal and musculoskeletal anomalies (61.5% and 66.7%, respectively). There were 130 (86%) fetuses in group 1, 7 in group 2 (4.6%), 3 in group 3 (1.9%) and 11 in group 4 (7.2%). In 5.29% of cases, the autopsy added relevant information to the diagnosis and counselling.



Conclusions

Diagnosis concordance between US and necropsy is achieved in almost 90% of cases. An autopsy may help to adjust the diagnosis and help in counselling the parents for a future pregnancy. © 2014 John Wiley & Sons, Ltd.

Concordance between prenatal ultrasound and autopsy findings in a tertiary center.

Studies to prevent gestational diabetes (GDM) have shown the best results when lifestyle measures have been applied early in pregnancy. We aimed to investigate whether first-trimester fasting plasma glucose (FPG) could predict GDM risk and adverse pregnancy outcomes.
 A retrospective analysis of prospectively collected data from singleton pregnancies who were attended at our hospital between 2008 and 2018 (n = 27,198) was performed. We included patients with a recorded first-trimester FPG and complete pregnancy data (n = 6845). Patients under 18, with pregestational diabetes or reproductive techniques, were excluded. First-trimester FPG was evaluated as a continuous variable and divided into quartiles. GDM was diagnosed by NDDG criteria. The relationship between first- and second-trimester glucose > 92 mg/dL was also investigated. The relationship between FPG and pregnancy outcomes was assessed in 6150 patients who did not have GDM. Maternal age was 34.2 ± 3.9 years, BMI 23.1 ± 3.7 kg/m2 and mean FPG 83.0 ± 7.3 mg/dL. Glucose quartiles were: ≤ 78, 79–83, 84–87 and ≥ 88 mg/dL. First-trimester FPG predicted the risk of GDM (7%, 8%, 10.2% and 16% in each quartile, p   92 mg/dL (2.6%, 3.8%, 6.3% and 11.4% in each quartile, p < 0.001). FPG was significantly associated with LGA (8.2%, 9.3%, 10% and 11.7% in each quartile, p = 0.011) but not with other obstetrical outcomes. In a multivariate analysis including age, BMI, tobacco use, number of pregnancies and weight gained during pregnancy, first-trimester FPG was an independent predictor of LGA.
 First-trimester FPG is an early marker of GDM and LGA.

First-trimester fasting glycemia as a predictor of gestational diabetes (GDM) and adverse pregnancy outcomes

Objective

To examine the distribution of first-trimester biochemical markers of aneuploidy in twins according to chorionicity.



Methods

Maternal serum free-β-human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein A (PAPP-A) were measured between 8–13 + 6 weeks as a part of a routine first-trimester screening program in conjunction with fetal nuchal translucency measured at 11 to 13 + 6 weeks’ gestation. Data from 279 twin pregnancies were extracted from our fetal databases. Down syndrome cases were excluded. Individual marker concentrations were expressed as weight, ethnicity, smoking and maternal diabetes corrected. To compare the distributions of the biochemical parameters, a generalized additive model was used adjusted to a smoothing regression model with the values transformed with base 10'' logarithm using R software (generalized additive model-smoothing spline regression).



Results

Free-β-hCG and PAPP-A distributions, analyzed with a generalized additive model adjusted to a smoothing regression model, were significantly different depending on the chorionicity. We graphically displayed the relationship between the predicted concentration of the free-β-hCG and PAPP-A and the gestational age in days for monochorionic and dichorionic twins adjusted by weight.



Conclusion

Pregnancy-associated plasma protein A and free-β-hCG values are gestational age specific. It is necessary to make a distinction between monochorionic and dichorionic twins because biochemical markers are lower in monochorionic than in dichorionic twins. © 2012 John Wiley & Sons, Ltd.

Pilar Prats

Papers

The study of fetal neurobehavior in twins in all three trimesters of pregnancy

Systematic review of screening for trisomy 21 in twin pregnancies in first trimester combining nuchal translucency and biochemical markers: a meta-analysis

Concordance between prenatal ultrasound and autopsy findings in a tertiary center.

First-trimester fasting glycemia as a predictor of gestational diabetes (GDM) and adverse pregnancy outcomes

Early first-trimester free-β-hCG and PAPP-A serum distributions in monochorionic and dichorionic twins.