scholarly journals Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study

2020 ◽  
Author(s):  
Elina Holopainen ◽  
Svetlana Vakkilainen ◽  
Outi Mäkitie

Abstract Background Cartilage-hair hypoplasia (CHH) is a rare skeletal dysplasia characterized by disproportionate short stature, immunodeficiency, anemia and risk of malignancies. All these features can affect pregnancy and predispose to maternal and fetal complications. This study aimed to evaluate obstetric history and maternal and fetal outcomes in women with CHH. Methods Among 47 Finnish women with CHH, we identified 14 with pregnancy-related diagnoses in the National Hospital Discharge Registry and obtained detailed data on gynecologic and obstetric history with a questionnaire. Offspring birth length and weight were collected and compared with population-based normal values. Results There were altogether 42 pregnancies in 14 women (median height 124 cm, range 105–139). Twenty-six pregnancies (62%), including one twin pregnancy, led to a delivery. Miscarriages, induced abortions and ectopic pregnancies complicated 9, 5, and 2 pregnancies, respectively. Severe pregnancy-related complications were rare. All women with CHH delivered by cesarean section, mostly due to evident cephalo-pelvic disproportion, and in 25/26 cases at full-term. In the majority, the birth length (median 48 cm, range 45.5–50) and weight (3010 g, range 2100–3320) of the offspring in full-term singleton pregnancies was normal. Conclusions Despite CHH mothers’ significant short stature and other potential CHH-related effects on pregnancy outcome, most pregnancies lead to a term cesarean section delivery. Since fetal growth was generally unaffected, cephalo-pelvic disproportion was evident and elective cesarean section should be planned in term pregnancies.

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Elina Holopainen ◽  
Svetlana Vakkilainen ◽  
Outi Mäkitie

Abstract Background Cartilage-hair hypoplasia (CHH) is a rare skeletal dysplasia characterized by disproportionate short stature, immunodeficiency, anemia and risk of malignancies. All these features can affect pregnancy and predispose to maternal and fetal complications. This study aimed to evaluate obstetric history and maternal and fetal outcomes in women with CHH. Methods Among 47 Finnish women with CHH, we identified 14 women with ICD codes related to pregnancies, childbirth and puerperium in the National Hospital Discharge Registry and obtained detailed data on gynecologic and obstetric history with a questionnaire. Offspring birth length and weight were collected and compared with population-based normal values. Results There were altogether 42 pregnancies in 14 women (median height 124 cm, range 105–139 cm; 4′1′′, range 3′5′′–4′7′’). Twenty-six pregnancies (62%), including one twin pregnancy, led to a delivery. Miscarriages, induced abortions and ectopic pregnancies complicated 9, 5, and 2 pregnancies, respectively. Severe pregnancy-related complications were rare. All women with CHH delivered by cesarean section, mostly due to evident cephalo-pelvic disproportion, and in 25/26 cases at full-term. In the majority, the birth length (median 48 cm, range 45.5–50 cm; 1′7′′, range 1′6′′–1′8′′) and weight (3010 g, range 2100–3320 g; 6.6 lb, range 4.6–7.3 lb) of the offspring in full-term singleton pregnancies was normal. Conclusions Despite CHH mothers’ significant short stature and other potential CHH-related effects on pregnancy outcome, most pregnancies lead to a term cesarean section delivery. Since fetal growth was generally unaffected, cephalo-pelvic disproportion was evident and planned cesarean section should be contemplated in term pregnancies.


2020 ◽  
Author(s):  
Elina Holopainen ◽  
Svetlana Vakkilainen ◽  
Outi Mäkitie

Abstract Background: Cartilage-hair hypoplasia (CHH) is a rare skeletal dysplasia characterized by disproportionate short stature, immunodeficiency, anemia and risk of malignancies. All theses features can affect pregnancy and predispose to maternal and fetal complications. This study aimed to evaluate obstetric history and maternal and fetal outcomes in women with CHH. Methods: Among 47 Finnish women with CHH, we identified 14 women with ICD codes related to pregnancies, childbirth and puerperium in the National Hospital Discharge Registry and obtained detailed data on gynecologic and obstetric history with a questionnaire. Offspring birth length and weight were collected and compared with population-based normal values. Results: There were altogether 42 pregnancies in 14 women (median height 124 cm, range 105-139 cm; 4'1'', range 3'5''-4'7''). Twenty-six pregnancies (62%), including one twin pregnancy, led to a delivery. Miscarriages, induced abortions and ectopic pregnancies complicated 9, 5 and 2 pregnancies, respectively. Severe pregnancy-related complications were rare. All women with CHH delivered by cesarean section, mostly due to evident cephalo-pelvic disproportion, and in 25/26 cases at full-term. In the majority, the birth length (median 48 cm, range 45.5-50 cm; 1'7'', range 1'6''-1'8'') and weight (3010 g, range 2100-3320 g; 6.6 lb, range 4.6-7.3 lb) of the offspring in full-term singelton pregnancies was normal. Conclusions: Despite CHH mothers' significant short stature and other potential CHH-related effects on pregnancy outcome, most pregnancies lead to a term cesarean section delivery. Since fetal growth was generally unaffected, cephalo-pelvic disproportion was evident and planned cesarean section should be planned in term pregnancies.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Sigridur Bjornsdottir ◽  
Bart Lyman Clarke ◽  
Outi Makitie ◽  
Tim Spelman ◽  
Olle Kampe

Abstract Context: The majority of patients with hypoparathyroidism (HypoPT) are women. It is not known whether the presence of hypoparathyroidism influences the pregnancy outcomes. Sweden has excellent conditions for research in this area, with high-quality population-based registers covering essentially all inpatient care and birth records. In this study, data were linked from the Swedish National Patient Register and Swedish Medical Birth Register to examine the potential influence of maternal hypoPT on the number of childbirths and various pregnancy outcomes. Design and Setting: Population-based cohort study in Sweden. Patients: Through the Swedish National Patient Register and the Total Population Register, we identified 1267 women with HypoPT and 12 670 age-matched controls who gave birth between 1997 and 2016. Results: There was no significant difference in mean age at delivery for women with HypoPT (32 (SD, 5.2)) years and controls (32.5 (5.0)). There were significantly more women with HypoPT who smoked at baseline (p= 0.007) and within 3 months of pregnancy (p=0.022) compared to controls. Significantly more women with HypoPT had part time work or were not working during pregnancy compared to controls (p = 0.002). The mean number of infants per woman was 0.30 (SD, 0.62) in the HypoPT group and 0.33 (SD, 0.60) in the control group (p=0.644). Compared with the control group, the risk of elective cesarean section was higher in the HypoPT group (p=0.002). However, there was no difference in the proportion of women undergoing an acute cesarean section between cases and controls (p=0.754). The mean pregnancy duration in women with HypoPT was 38.87 (2.11) weeks compared to 39.23 (2.04) weeks for the controls (p= 0.001). Infants born to mothers with HypoPT were significantly shorter (p=0.016), but no difference was seen in weight or head circumference compared to infants born to controls. No difference was observed in prevalence of small- or large-for gestational age compared to controls. There were no differences between groups with respect to infant sex or Apgar scores at 1, 5 and 10 min, congenital malformations or stillbirth. There was furthermore no difference in pain medication use by mothers during delivery between the groups (p=0,733). Conclusion: The majority of women with HypoPT had normal pregnancy outcomes, and the overall risks must be considered to be low. Still, our findings are of importance for antenatal counseling in women with HypoPT as their risk for elective cesarean section was significantly higher compared with controls. Their children were shorter and the higher rate of smoking among HypoPT women may be an additional risk factor.


1989 ◽  
Vol 121 (2) ◽  
pp. 297-303 ◽  
Author(s):  
Toshiro Kubota ◽  
Hiroo Tsuzuki ◽  
Motoi Saito

Abstract. This study focuses on PRL, GH, β-endorphin and cortisol in maternal blood and amniotic fluid during human pregnancy. Maternal blood and amniotic fluid samples were obtained from 18 normal pregnant women in the second trimester, 12 full-term gravidas having spontaneous delivery, and 10 full-term gravidas having elective cesarean section. Two gravidas bearing anencephalic fetuses in the third trimester were also studied. In the second trimester women, levels of PRL (3215.9 ± 458.9 μg/l), GH (19.1 ± 1.7 μg/l) and β-endorphin (11.1 ± 0.9 pmol/l) were significantly higher in the amniotic fluid than in maternal plasma. In addition, PRL was significantly correlated with β-endorphin (r = 0.670) and with GH (r = 0.547) in the amniotic fluid. However, amniotic fluid cortisol levels (0.27 ± 0.18 nmol/l) were significantly lower than plasma cortisol levels. The amniotic fluid of the women with anencephalic fetuses had normal levels of PRL, GH and β-endorphin. In full-term gravidas, plasma PRL levels were significantly lower in women with vaginal delivery than in those with elective cesarean section, and there was a significant negative correlation between plasma PRL and β-endorphin, and between plasma PRL and cortisol levels. Plasma GH levels in women with vaginal delivery showed no signficant difference from those in women with cesarean section. Examination of amniotic fluid yielded no significant differences in the levels of PRL, β-endorphin and GH between these two groups. The authors conclude that the hormone releasing system in amniotic fluid seems to be independent of that in maternal plasma during pregnancy, and that the stress of labour has a significant effect on plasma PRL, β-endorphin and cortisol levels in maternal plasma but not on those in amniotic fluid.


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