From Six Losses to a Healthy Baby: A Journey That Continues With Hope

In this article, we share the journey of a couple carrying propionic acidemia, leading to a healthy baby through preimplantation genetic diagnosis (PGT).

Our expectant mother, born in 1994, and her husband were a consanguineous couple carrying a single-gene disorder called propionic acidemia. The family had experienced three early miscarriages and three postnatal infant losses. Due to these pregnancy losses, our expectant mother had undergone dilation and curettage (D&C) three times.

Genetic evaluations determined that the couple's losses were related to propionic acidemia. Over time, a severe male factor with quite low sperm values was added to the clinical picture. The chromosome analyses of the expectant mother and father were assessed as 46,XX and 46,XY respectively, and a chromosome 9 inversion was detected in both.

Our couple had four IVF attempts at other centers before coming to us. One of these attempts resulted in a blighted ovum (empty gestational sac), while the other transfers did not achieve pregnancy.

When they came to us, our expectant mother's young age was a significant advantage. An AMH value of 4.2 showed that her ovarian reserve was in quite good condition. However, the main challenge facing our couple was not simply achieving pregnancy, but reaching an embryo that was both unaffected by propionic acidemia and chromosomally suitable.

For this reason, we planned a comprehensive genetic evaluation that would allow us to examine the embryos both for the single-gene disorder causing propionic acidemia and for their chromosomal status.

First Attempt

In the first cycle we performed in May 2025, four embryos that reached day five were sent for genetic testing. Of these embryos, only one was found to be a carrier for propionic acidemia while being chromosomally normal, meaning euploid.

This embryo, evaluated as day-six and of moderate quality, was thought to have been somewhat affected by the thawing process. Unfortunately, the first transfer, which we performed in a natural cycle, did not result in pregnancy.

However, our couple did not lose their hope or their trust in us. Following the first transfer, we performed a hysteroscopy on our expectant mother to thoroughly evaluate the uterine cavity. We then set out on this journey together once again.

The second attempt and a promising result

In the second cycle, we obtained 15 embryos and sent them for genetic testing. The results showed:

– Two embryos that were healthy for propionic acidemia and chromosomally normal,
– One embryo that was a carrier for propionic acidemia but chromosomally normal,
– One carrier embryo with approximately 30 percent mosaicism

were identified.

Thus, our couple now had a total of four embryos that could be considered for transfer.

Following the hysteroscopy, we monitored our expectant mother's natural cycle and performed the transfer of one of the suitable embryos in a natural cycle. The first pregnancy hormone level was measured at 160. At the second measurement, this value rose above 500. On the subsequent ultrasound, we saw our baby's heartbeat.

A new concern arising during the pregnancy

Later in the pregnancy, a non-invasive prenatal screening test was requested by a physician. The test result raised a suspicion of an anomaly related to a different chromosome.

Since non-invasive prenatal testing is a screening test and does not provide a definitive diagnosis, we chose the path of diagnostic evaluation together with the family. The amniocentesis results confirmed that our baby was not affected by propionic acidemia and had no chromosomal anomalies.

After many years of losses, uncertainties, and unsuccessful treatments, our couple finally held their healthy baby in their arms.

This story once again showed that, with accurate genetic evaluation, personalized treatment, patience, and mutual trust, hope can be preserved even in the most challenging journeys.

We wish our family a peaceful, happy, and beautiful life together with their healthy baby.