Obstetric Factors, Neonatal Hypoxia and Congenital Heart Defects in Children with 22q11.2 Deletion Syndrome: Effects on Developmental Delay Open Access

Tenorio Martinez, Sofia (Spring 2020)

Permanent URL: https://etd.library.emory.edu/concern/etds/nk322f569?locale=en


Background: 22q11.2 Deletion Syndrome (22q11.2DS) has a prevalence of 1/4000 live births and is the second most common cause of developmental delay and Congenital Heart Defects (CHD) in the US. Preterm birth and low birthweight (BW) can influence brain development and lead to adverse outcomes. However, there is a lack of prevalence data on preterm births and BW, delivery methods, neonatal hypoxia and poor respiration at birth for this population.

Hypothesis: Determine the distribution of gestational age (GA), BW, Small for Gestational Age (SGA), delivery method, neonatal hypoxia and poor respiration. Analyze the association between these factors and developmental delay domains.

Methods: Analyzed a sample of 158 participants, all with genetically confirmed 22q11DS. Data were abstracted for BW, GA, SGA, delivery method, neonatal hypoxia, poor respiration at birth and CHD presence. Use logistic regression models to assess the association between BW, GA and SGA with and developmental delay as determined by CDIP and CSBS-CP scores.

Results: Of the participants, 47 (29.75%) were delivered by C-Section. Hypoxia was reported in 18 (11.39%) children and there were 42 (26.58%) with poor respiration at birth. Most of the participants had at least one congenital heart defect (125, 79.11%). Of those labeled as Level 2 (Hypoxic CHD), the majority had Tetralogy of Fallot (30, 18.99%). Of those considered as level 1 CHD (lowest risk of hypoxia) the majority had Ventricular Septal Defects (62, 39.24%). Mean GA was 38.06 weeks (SD 1.83), BW of 2,920 grams (SD 560) and birthweight percentile of 32.07% (SD 28.61), with 33.33% meeting established criteria for SGA. Neonatal hypoxia was associated with an increased likelihood of C-Section (Prevalence Odds Ratio 3.10, p .03). CHD Hypoxia Level 1 (OR: 11.89, 1.55- 130.72, p=.03), SGA (OR: .14, .02-.73, p=.03) and CHD Hypoxia Level 2 (OR: .13, .01-.88, p=.05) were associated to domains of developmental delay.

Conclusions: Patients with 22q11.2DS have higher prevalence of GA, BW and SGA compared to the general population. SGA and CHD Hypoxia have an impact on developmental delay, albeit in opposite directions. Additional investigations are required to understand how these obstetric factors influence neurodevelopmental conditions.

Table of Contents

1. Background 1

2. Methods 9

3. Results 15

4. Discussion 22

5. References 29

6. Tables 33

7. Figures 39

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