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Annals of Medicine and Surgery (2012) May 2024The diagnostic criteria for Quintero staging in twin-to-twin transfusion syndrome (TTTS) are not applicable in all cases of TTTS, such as those in which the symptoms...
INTRODUCTION AND IMPORTANCE
The diagnostic criteria for Quintero staging in twin-to-twin transfusion syndrome (TTTS) are not applicable in all cases of TTTS, such as those in which the symptoms overlap with other monochorionic twin complications such as selective intrauterine growth restriction (sIUGR).
CASE PRESENTATION
A 25-year-old woman, G1P0A0, at 22-24 weeks' gestational age was diagnosed with TTTS, with no outstanding history of medication use during pregnancy, and no family history of genetic disorder or twin pregnancy. In the donor twin, persistently absent end-diastolic flow in the umbilical artery was observed using Doppler velocimetry. Polyhydramnios was observed in the recipient twins. The fetal weight discordance between the twins was 39%. After 2 weeks of follow-up, the authors performed fetoscopic laser photocoagulation and successfully ablated five vascular anastomoses and amnioreduction by 2.5 l. Five days after the laser surgery, the patient developed amniotic fluid leakage, and an amniopatch was performed. The authors did the caesarean section at 34 weeks because of severe preeclampsia, the donor and recipient birth weights were 1,120 g and 1,837 g, respectively (weight discordance 39%). The APGAR scores were 3/4 and 6/8, respectively. The donor twin died 6 days after delivery due to respiratory failure, and the recipient twin survived. Neonatal echocardiography of the surviving twin showed no tricuspid regurgitation. No long-term follow-up was performed.
CLINICAL DISCUSSION
The traditional diagnostic criteria for TTTS stage 3 were not met and overlapped with the diagnostic criteria for sIUGR type 2. This is the first procedure reported in Indonesia for atypical TTTS with the outcome, one twin survived.
CONCLUSION
Some TTTS cases do not meet traditional diagnostic criteria and overlap with other monochorionic twin complications.
PubMed: 38694332
DOI: 10.1097/MS9.0000000000001975 -
American Journal of Perinatology Apr 2024This study aimed to determine the diagnostic yield of chromosomal microarray analysis (CMA) performed in cases of fetal abnormalities detected during the third...
OBJECTIVE
This study aimed to determine the diagnostic yield of chromosomal microarray analysis (CMA) performed in cases of fetal abnormalities detected during the third trimester of pregnancy.
STUDY DESIGN
A retrospective review of medical records was conducted for women who underwent amniocentesis at or beyond 28 weeks of gestation between January 2017 and February 2023. CMA results of pregnancies with abnormal sonographic findings not detected before 28 weeks were included.
RESULTS
A total of 482 fetuses met the inclusion criteria. The average maternal age was 31.3 years, and the average gestational age at amniocentesis was 32.3 weeks. The overall diagnostic yield of CMA was 6.2% (30 clinically significant copy number variations [CNVs]). The yield was 16.4% in cases with two or more fetal malformations, while cases with a single anomaly revealed a diagnostic yield of 7.3%. Cases presenting isolated polyhydramnios or isolated fetal growth restriction had a lower yield of 9.3 and 5.4%, respectively. Of the 30 clinically significant cases, 19 (or 63.4%) exhibited recurrent CNVs. The remaining 11 cases (or 36.6%) presented unique CNVs. The theoretical yield of Noninvasive Prenatal Testing (NIPT) in our cohort is 2% for aneuploidy, which implies that it could potentially miss up to 70% of the significant findings that could be identified by CMA. In 80% of the fetuses (or 24 out of 30) with clinically significant CNVs, the structural abnormalities detected on fetal ultrasound examinations corresponded with the CMA results.
CONCLUSION
The 6.2% detection rate of significant CNVs in late-onset fetal anomalies confirms the value of CMA in third-trimester amniocentesis. The findings underscore the necessity of CMA for detecting CNVs potentially overlooked by NIPT and emphasize the importance of thorough genetic counseling.
KEY POINTS
· CMA yields 6.2% for third-trimester anomalies.. · NIPT may miss 70% of CMA findings.. · Ultrasound matched 80% of CMA results..
PubMed: 38688298
DOI: 10.1055/s-0044-1786514 -
Monaldi Archives For Chest Disease =... Apr 2024We analyzed the risk factors and outcomes of antenatally diagnosed congenital diaphragmatic hernia (CDH) from a tertiary-care children's hospital following in-utero...
We analyzed the risk factors and outcomes of antenatally diagnosed congenital diaphragmatic hernia (CDH) from a tertiary-care children's hospital following in-utero transfer. A total of 41 antenatally detected cases of CDH were included; 30 were live-born and 11 were still-born. The primary outcome was postnatal survival. The secondary outcome was the probable factor affecting survival. No medical termination of the pregnancy was done. The mean gestational age at diagnosis was 23 weeks. The diagnostic accuracy of antenatal ultrasonography was 40/41 (97.5%). Lung-to-head ratio (LHR) was <1 in 20 cases (survived 2), LHR was >1 in 10 cases (survived 8), and LHR was not recorded in 11 cases (survived 4). Overall survival was 14/41 (34.1%). Survival in fetuses with polyhydramnios was 0% (n=3; survived 0), associated anomalies were 33.3% (n=3; survived 1), and liver herniation was 22.2% (n=9; survived 2). Postnatally, significant risk factors included a low Apgar score, the need for ventilation, and neonatal intensive care unit (NICU) management. Survival in live-born cases was 14/30 (46.6%) and in operated cases was 14/19 (73.6%). We concluded that antenatal ultrasound had a high accuracy rate for detecting CDH. Antenatal risk factors affecting outcomes were low LHR, maternal polyhydramnios, liver herniation, and associated malformations. Postnatal risk factors included a low Apgar score, NICU admission, and a need for ventilation. The overall survival rate, as well as the survival rates for live-borns and those undergoing surgery, were 34.1%, 46.6%, and 73.6%, respectively. This data will guide clinicians in counseling the families of antenatally diagnosed CDH.
PubMed: 38686978
DOI: 10.4081/monaldi.2024.2880 -
Prenatal Diagnosis Apr 2024The objective of our study was to evaluate the long-term outcome of children born from a pregnancy complicated by idiopathic polyhydramnios. The secondary objective was...
OBJECTIVES
The objective of our study was to evaluate the long-term outcome of children born from a pregnancy complicated by idiopathic polyhydramnios. The secondary objective was to investigate factors associated with adverse outcomes.
METHODS
We conducted a retrospective study in two prenatal diagnosis centers between January 1, 2009 and December 31, 2020. Inclusion criteria were pregnancies with a diagnosis of idiopathic polyhydramnios, defined by a deepest pocket greater than 8 cm, no detectable abnormality at ultrasound and a negative amniotic fluid assessment including karyotype, chromosomal microarray, biochemical assays (electrolytes and digestive enzymes), and viruses (parvovirus B19 and cytomegalovirus). One-year outcomes of these children were collected. The primary endpoint was adverse postnatal outcome, defined by at least one of the following criteria: stillbirth, neonatal death, or serious and incurable condition diagnosed in the first year of life.
RESULTS
Of the 245 women referred for isolated polyhydramnios, 73 were diagnosed with idiopathic polyhydramnios after prenatal investigations. The mean age at follow-up of children was 28 months (95% CI 20-36). An adverse outcome occurred in 25% of cases (18/73), with one stillbirth, two neonatal deaths, and 15 severe conditions diagnosed postnatally, including a rate of monogenic disorders of 8.2% (6/73). Pediatric follow-up was normal for 75% of the children (55/73), including a rate of 9% (5/55) of curable conditions. Repeated amnioreduction was independently associated with an adverse outcome.
CONCLUSION
Pregnant women with polyhydramnios should be informed of the increased risk of 25% of perinatal mortality and serious conditions diagnosed after birth.
PubMed: 38682787
DOI: 10.1002/pd.6573 -
Children (Basel, Switzerland) Apr 2024Pregnancies complicated by severe polyhydramnios are associated with a high rate of underlying fetal anomaly. Amnioreduction may be offered to alleviate maternal...
Pregnancies complicated by severe polyhydramnios are associated with a high rate of underlying fetal anomaly. Amnioreduction may be offered to alleviate maternal symptoms. This is a retrospective study of amnioreductions performed on singleton and twin gestations complicated by symptomatic polyhydramnios between 2010 and 2023 at our tertiary referral center. The indications, procedural techniques and pregnancy and neonatal outcomes were retrieved from an archive database and reviewed with the use of the maternal and child medical record chart, the hospital electronic clinical discharge report and telephone recalls. Our study comprised 86 pregnancies, 65 singletons and 21 twin pregnancies. Fetal anomalies were identified in 79% of cases, mainly gastrointestinal obstructive anomalies; 9.3% of cases were idiopathic. The median gestational age at first amnioreduction was 32.5 weeks, and peri-procedural complications were rare (1 case of placental abruption and 2 cases of preterm delivery). The median gestational age at delivery was 36.5 weeks, with a median prolongation of the pregnancy from the time of first drain until birth of 30 days. Preterm labor < 37 weeks occurred in 48.8% of procedures, with 26.7% of patients delivering before 34 weeks and pPROM < 36 weeks recorded in 23.2% of cases. In conclusion, amnioreduction offered to alleviate maternal symptoms is a reasonably safe procedure with a low complication rate. These pregnancies necessitate management in a tertiary referral center because of their need for a multidisciplinary approach both prenatally and postnatally.
PubMed: 38671719
DOI: 10.3390/children11040502 -
International Journal of Gynaecology... Apr 2024This study will evaluate whether fetal cerebroplacental ratio (CPR) can predict perinatal adverse outcomes in singleton pregnancies with mild and moderate idiopathic...
OBJECTIVE
This study will evaluate whether fetal cerebroplacental ratio (CPR) can predict perinatal adverse outcomes in singleton pregnancies with mild and moderate idiopathic polyhydramnios (IP).
METHOD
This study was designed as a prospective case-control study between January 2023 and November 2023. Pregnant women diagnosed with mild-to-moderate IP and low-risk singleton pregnancies were included in the study. In all cases, umbilical artery (UA) and middle cerebral artery (MCA) pulsatility indices (PIs) were measured at 36-40 weeks of gestation, and CPR was calculated. The group with polyhydramnios was divided into two parts according to whether the CPR value was below 1.08 or 1.08 and above. Perinatal outcomes of all groups were compared.
RESULTS
A total of 140 patients were included in the study. Seventy of these were IP cases, and 70 were low-risk pregnant women. UA PI in the IP group was not statistically different from that in the low-risk group, but MCA PI and CPR were significantly lower in the IP group (P = 0.07, P = 0.001, and P = 0.004, respectively). IP cases were divided into a low group (<1.08, n = 18) and a normal group (≥1.08, n = 52) according to the CPR value. Cesarean section rates due to fetal distress were significantly higher in the low-CPR group (n = 8 [44.4%] vs 5 [9.6%], P = 0.001). In the low-CPR group, 5-min Apgar <7, and neonatal intensive care unit (NICU) admission rates were significantly higher (P = 0.045 and P = 0.001, respectively).
CONCLUSION
It is encouraging that in cases with mild-to-moderate IP, low CPR predicts emergency delivery due to fetal distress, a low Apgar score at 5 min, and NICU admission.
PubMed: 38666357
DOI: 10.1002/ijgo.15556 -
Fetal Diagnosis and Therapy Apr 2024CHARGE syndrome is an autosomal dominant genetic disorder with known pattern of features. The aim of the study was to present the fetal features of CHARGE syndrome to...
INTRODUCTION
CHARGE syndrome is an autosomal dominant genetic disorder with known pattern of features. The aim of the study was to present the fetal features of CHARGE syndrome to gain awareness that the antenatal characteristics can be very nonspecific.
CASE PRESENTATION
This was a retrospective study of 13 cases with CHARGE syndrome diagnosed by prenatal or postnatal genetic testing and physical examination. Two (15.4%; 2/13) had normal ultrasound scans during pregnancy. One (7.7%; 1/13) with first-trimester cystic hygroma presented intrauterine fetal demise at 16 weeks gestation. The remaining 10 (76.9%; 10/13) cases had abnormal ultrasound features in utero; among these, 1 had an increased nuchal translucency in the first trimester, 5 had second-trimester abnormal ultrasounds including micrognathia, cardiac defects, and facial defects, and 4 third-trimester abnormal ultrasounds including micrognathia, isolated fetal growth restriction, and polyhydramnios. Among the 11 cases with abnormal prenatal ultrasound scans, no fetus could reach the diagnostic criteria of CHARGE syndrome if only based on the results of ultrasound. However, the diagnosis was made in all cases when CHD7 defects were detected.
DISCUSSION/CONCLUSION
The CHARGE syndrome presents non-specific abnormal ultrasound markers in utero. Exome sequencing in the genetic workup will aid in prenatal diagnosis of this syndrome.
PubMed: 38631314
DOI: 10.1159/000538949 -
Hong Kong Medical Journal = Xianggang... Apr 2024
PubMed: 38602136
DOI: 10.12809/hkmj2310668 -
Journal of Clinical Medicine Feb 2024With the increasing popularity of elective induction after 39 + 0 weeks, the question of whether induction of labor (IOL) is safe in women with isolated polyhydramnios...
With the increasing popularity of elective induction after 39 + 0 weeks, the question of whether induction of labor (IOL) is safe in women with isolated polyhydramnios has become more relevant. We aimed to evaluate the pregnancy outcomes associated with IOL among women with and without isolated polyhydramnios. This was a multicenter retrospective cohort that included women who underwent induction of labor at term. The study compared women who underwent IOL due to isolated polyhydramnios to low-risk women who underwent elective IOL due to gestational age only. The main outcome measure was a composite adverse maternal outcome, while the secondary outcomes included maternal and neonatal adverse pregnancy outcomes. During the study period, 1004 women underwent IOL at term and met inclusion and exclusion criteria; 162 had isolated polyhydramnios, and 842 had a normal amount of amniotic fluid. Women who had isolated polyhydramnios had higher rates of the composite adverse maternal outcome (28.7% vs. 20.4%, = 0.02), prolonged hospital stay, perineal tear grade 3/4, postpartum hemorrhage, and neonatal hypoglycemia. Multivariate analyses revealed that among women with IOL, polyhydramnios was significantly associated with adverse composite maternal outcome [aOR 1.98 (1.27-3.10), < 0.01]. IOL in women with isolated polyhydramnios at term was associated with worse perinatal outcomes compared to low-risk women who underwent elective IOL. Our findings suggest that the management of women with polyhydramnios cannot be extrapolated from studies of low-risk populations and that clinical decision-making should take into account the individual patient's risk factors and preferences.
PubMed: 38592253
DOI: 10.3390/jcm13051416 -
The American Journal of Case Reports Apr 2024BACKGROUND Maldevelopment of the fetal bowel can result in the rare condition of intestinal atresia, which results in congenital bowel obstruction. This report describes...
BACKGROUND Maldevelopment of the fetal bowel can result in the rare condition of intestinal atresia, which results in congenital bowel obstruction. This report describes a case of prenatal diagnosis of fetal ileal atresia at 22 weeks' gestation. CASE REPORT Here, we present a 24-year old woman who was 22 weeks into her first pregnancy when she underwent routine fetal ultrasound. She was diagnosed with gestational diabetes mellitus. Her body mass index was normal and she had normal weight gain. The ultrasonographic examination performed revealed a hyperechoic bowel and a small dilatation of the bowel. The couple was counselled for possible intestinal atresia and its postnatal implications. At 33 weeks of gestation, polyhydramnios appeared, and the intestinal distension was much more pronounced, with hyperechoic debris in the intestinal lumen (succus-entericus). After birth, surgery was performed and we concluded the patient had type II atresia, which was surgically treated. CONCLUSIONS This report has highlighted the importance of antenatal ultrasound in detecting fetal abnormalities, and has shown that rare conditions such as intestinal atresia can be accurately diagnosed and successfully managed. Surgical correction, if implemented promptly after stabilizing the general condition, can have a relatively good prognosis. Coexisting fetal ileal atresia and gestational diabetes mellitus are rare occurrences, which can make each condition even more difficult to treat.
Topics: Humans; Female; Pregnancy; Young Adult; Adult; Diabetes, Gestational; Intestinal Atresia; Intestine, Small; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 38584385
DOI: 10.12659/AJCR.942838