# Placental insufficiency irrespective of offspring karyotype in maternal Turner syndrome: a case series and literature review

## TL;DR

Pregnancies in women with Turner syndrome often face placental issues, even when the baby's genetic makeup is normal.

## Contribution

This case series identifies placental insufficiency as a consistent issue in Turner syndrome pregnancies, regardless of fetal karyotype.

## Key findings

- Placental insufficiency was the most common complication in Turner syndrome pregnancies.
- Newborns with Turner syndrome had long-term health problems, while mothers had no severe complications.
- Spontaneous pregnancies in Turner syndrome patients still showed high rates of fetal compromise.

## Abstract

Turner syndrome is one of the most common aneuploidies. In vitro fertilization
with oocyte donation is the usual method of assisted conception, but spontaneous
pregnancy can also occur. Although pregnancies in Turner syndrome are widely
accepted to be associated with small for gestational age foetuses, neither the
causal role of placental insufficiency nor the contribution of maternal and
foetal factors is well understood. Between 2009 and 2023, we followed 75
patients diagnosed with Turner syndrome at our university clinic, and four
Turner syndrome patients became pregnant (4/75; 5.3%): ten pregnancies with
seven live births (7/10; 70%) were reported. Conception was spontaneous in 6/7
patients (86%), and one patient had in vitro fertilization with oocyte donation.
Two Turner syndrome patients with karyotype 45,X and two Turner syndrome
patients with mosaicism (45,X/46,XX) were identified. Prenatal transabdominal
amniocentesis revealed aneuploidy (45,X) in two foetuses. The most common
obstetric complication was placental insufficiency, which presented as
intrauterine growth restriction and foetal distress. Four early-term deliveries,
one late-term delivery, one preterm delivery, and one extremely premature
delivery occurred, and all pregnancies were terminated by caesarean section. No
severe maternal complications during pregnancy were reported. Only newborns with
Turner syndrome had long-term health problems. In Turner syndrome patients, even
if pregnancy is conceived spontaneously, no maternal complications occur, and
the foetus also has a normal karyotype, there is still a high prevalence of
placental insufficiency and foetal compromise. The presented cases highlight the
possible role of inherent maternal factors in Turner syndrome-associated
intrauterine growth restriction and emphasize the importance of enhanced
obstetric surveillance even in apparently uncomplicated Turner syndrome
pregnancies.