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1.
BJOG ; 131(2): 207-212, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37039242

ABSTRACT

OBJECTIVE: To investigate the significance of not meeting Dawes-Redman criteria on computerised cardiotocography in high-risk pregnancies. DESIGN: Retrospective observational study. SETTING: UK university hospital. POPULATION: High-risk pregnancies undergoing antenatal assessment. METHODS: We interrogated the database for records of computerised fetal heart rate assessment and pregnancy outcomes. MAIN OUTCOME MEASURES: Neonatal outcome and stillbirths. RESULTS: Excluding duplicate assessment in the same pregnancy, 14 025 records with complete information on the criteria of normality having been met and the outcome of the pregnancy were available. Criteria were not met for 907 records (6.46%). The gestational age of assessment was lower in the group not meeting criteria of normality. Overall, 32 stillbirths occurred in normally formed fetuses (2.28/1000). Stillbirths were more frequent in the group not meeting criteria (odds ratio [OR] 8.78, 95% CI 4.28-18.02). This finding persisted even after records with abnormally low short-term variation (STV) were excluded. The confidence intervals around the rate of stillbirth in the two groups overlapped beyond an STV of 8 ms. CONCLUSIONS: Approximately 1:16 pregnancies do not meet the criteria of normality. The criteria are not met more often at preterm gestation than at term. The risk of stillbirth was higher in the group not meeting criteria of normality, even if cases with low STV are excluded. Cases not meeting criteria should be followed up closely, unless the STV is ≥8 ms. Stillbirths still occurred in the group meeting criteria, but the rate was lower than in the general population.


Subject(s)
Heart Rate, Fetal , Stillbirth , Infant, Newborn , Pregnancy , Humans , Female , Stillbirth/epidemiology , Heart Rate, Fetal/physiology , Pregnancy Outcome/epidemiology , Cardiotocography , Gestational Age
2.
Genes (Basel) ; 15(3)2024 Mar 08.
Article in English | MEDLINE | ID: mdl-38540405

ABSTRACT

BACKGROUND: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial dysmorphisms, growth failure, delayed puberty, and variable degrees of neurodevelopmental delay. PROBLEM: The scattered information regarding the condition and the dearth of data on its natural history and developmental outcomes restrict genetic counseling, particularly in prenatal settings. Moreover, a prompt diagnosis is frequently delayed by the negative selection of trisomic cells in blood, with mosaicism percentage varying among tissues, which often entails the need for further testing. Purpose/topic: The aim of our work is to provide assistance in prenatal and postnatal genetic counseling by systematically delineating the current knowledge of the condition. This entails defining the prenatal and postnatal characteristics of the condition and presenting novel data from three cases, both prenatally and postnatally. Additionally, we report the developmental outcomes observed in two new patients.


Subject(s)
Chromosomes, Human, Pair 22 , Mosaicism , Trisomy , Humans , Trisomy/genetics , Female , Chromosomes, Human, Pair 22/genetics , Pregnancy , Prenatal Diagnosis , Male , Genetic Counseling , Uniparental Disomy/genetics , Infant, Newborn , Chromosome Disorders/genetics , Chromosome Disorders/diagnosis
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