Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases.

INTRODUCTION: Microcephaly, characterized by abnormal head growth, can often serve as an initial indicator of congenital, genetic, or acquired disorders. In this study, we sought to evaluate the effectiveness of chromosomal microarray (CMA) testing in detecting abnormalities in both prenatal and postnatal cases of microcephaly. MATERIALS AND METHODS: CMA Testing: We conducted CMA testing on 87 prenatally-detected microcephaly cases and 742 postnatal cases at a single laboratory. We evaluated the CMA yield in relation to specific clinical characteristics. RESULTS: In prenatal cases, pathogenic and likely pathogenic (LP) results were identified in 4.6% of cases, a significantly higher rate compared to low-risk pregnancies. The male-to-female ratio in this cohort was 3, and the CMA yield was not influenced by gender or other clinical parameters. For postnatal cases, the CMA yield was 15.0%, with a significantly higher detection rate associated with dysmorphism, hypotonia, epilepsy, congenital heart malformations (CHM), learning disabilities (LD), and a history of Fetal growth restriction (FGR). No specific recurrent copy number variations (CNVs) were observed, and the rate of variants of unknown significance was 3.9%. CONCLUSIONS: The yield of CMA testing in prenatal microcephaly is lower than in postnatal cases (4.6% vs. 15%). The presence of microcephaly, combined with dysmorphism, hypotonia, epilepsy, CHD, LD, and FGR, significantly increases the likelihood of an abnormal CMA result.

The role of mediolateral episiotomy during vacuum-assisted vaginal delivery with soft cup devices.

PURPOSE: This study evaluated whether episiotomy during vacuum-assisted delivery leads to fewer third- and fourth-degree tears. METHODS: This was a retrospective cohort study of all nulliparas who underwent a singleton, soft cup, vacuum-assisted vaginal delivery in one institution, from January 2014 to August 2019. Failed vacuum deliveries were excluded. Based on power analysis calculation, a sample size of 500 women in each group was sufficient to detect an advantage of episiotomy, if present. Primary outcome was third- or fourth-degree perineal tear. Secondary outcomes were other maternal complications, and low neonatal cord pH and Apgar scores. Outcomes were compared between women with and without episiotomy. RESULTS: During the study period, 2370 nulliparas had a vacuum-assisted vaginal delivery using soft vacuum cup and met the study inclusion criteria. Episiotomy was performed in 1868 (79%) women, and 502 (21%) delivered without episiotomy. Background characteristics were similar in both groups. There were no significant differences in the rates of third and fourth grade perineal lacerations between the two groups. Episiotomy was associated with higher rate of postpartum hemorrhage (p < 0.01) CONCLUSIONS: Using selective episiotomy for patients delivering vaginally with the assistance of soft cap vacuum does not increase third- or fourth-degree perineal tears.

Head Injuries Related to Birth Trauma in Low Birthweight Neonates During Vacuum Extraction.

Introduction Preterm delivery (gestational age < 34 w) is a relative contraindication to vacuum extraction. Current data do not differentiate clearly between preterm delivery and low birthweight. We aimed to evaluate the impact of non-metal vacuum cup extraction on neonatal head injuries related to birth trauma in newborns with low birthweights (< 2500 g). Materials and Methods A retrospective cohort of 3377 singleton pregnancies delivered by vacuum extraction from 2014 to 2019. All were gestational age ≥ 34 w. We compared 206 (6.1%) neonates with low birthweights < 2500 g to 3171 (93.9%) neonates with higher birthweights, divided into 3 subgroups (2500-2999 g, 3000-3499 g, and ≥ 3500 g). A primary composite outcome of neonatal head injuries related to birth trauma was defined. Results The lowest rates of subgaleal hematoma occurred in neonates < 2500 g (0.5%); the rate increased with every additional 500 g of neonatal birthweight (3.5%, 4.4% and 8.0% in the 2500-2999 g, 3000-3499 g, and ≥ 3500 g groups, respectively; p = 0.001). Fewer cephalohematomas occurred in low birthweight neonates (0.5% in < 2500 g), although the percentage increased with every additional 500 g of birthweight (2.6%, 3.3% and 3.7% in the 2500-2999 g, 3000-3499 g, and ≥ 3500 g groups, respectively, p = 0.020). Logistic regression found increasing birthweight to be a significant risk factor for head injuries during vacuum extraction, with adjusted odds ratios of 8.12, 10.88, and 13.5 for 2500-2999 g, 3000-3499 g, and ≥ 3500 g, respectively (p = 0.016). NICU hospitalization rates were highest for neonates weighing < 2500 g (10.2%) compared to the other groups (3.1%, 1.7% and 3.3% in 2500-2999 g, 3000-3499 g, ≥ 3500 respectively, p < 0.001). Conclusions Vacuum extraction of neonates weighing < 2500 g at 34 w and beyond seems to be a safe mode of delivery when indicated, with lower rates of head injury related to birth trauma, compared to neonates with higher birthweights.

Is There an Added Neonatal Risk in Vacuum-Assisted Deliveries with Nuchal Cord?

This retrospective cohort study assessed the association between nuchal cord and adverse outcomes during vacuum-assisted delivery (VAD). Women with singleton pregnancies, 34−41-weeks gestation, who underwent VAD, from 2014 to 2020 were included. The primary outcome was umbilical cord pH ≤ 7.1. Secondary outcomes were neonatal intensive care unit admission, Apgar scores, pH < 7.15, subgaleal hematoma, shoulder dystocia and third/fourth-degree perineal tear. Outcomes were compared between neonates with (1059/3754, 28.2%) or without (71.8%) nuchal cord after VAD. No difference in cord pH ≤ 7.1 was found between groups. The nuchal cord group had a lower rate of nulliparity (729 (68.8%) vs. 2004 (74.4%), p = 0.001) and higher maternal BMI (23.6 ± 4.3 vs. 23.1 ± 5, p = 0.017). Nuchal cord was associated with higher rates of induction (207 (19.5%) vs. 431 (16%), p = 0.009) and lower birthweights (3185 ± 413 vs. 3223 ± 436 g, p = 0.013). The main indication for VAD in 830 (80.7%) of the nuchal cord group was non-reassuring fetal heart rate (NRFHR) vs. 1989 (75.6%) controls (p = 0.004). The second stage was shorter in the nuchal cord group (128 ± 81 vs. 141 ± 80 min, p < 0.001). Multivariate regression found nulliparity, induction and birthweight as independent risk factors for nuchal cord VAD. Although induction and NRFHR rates were higher in VAD with nuchal cord, the rate of umbilical cord acidemia was not.