Published on
Updated
Reading 3 min.
in collaboration with
Dr Odile Bagot (Gynecologist-obstetrician)
At the birth of their first child, a couple from Saint-Quentin in Aisne was faced with a very difficult, unexpected ordeal: their daughter Alice suffered from a serious malformation affecting all of her limbs. How is this possible with exams during pregnancy?
In Aisne, at the end of 2021, a couple who had followed all the customary examinations during pregnancy faced the most total incomprehension, once little Alice was given birth: the newborn was suffering from a rare malformation which impacted all of his limbs, without having been detected, it seems, during ultrasound scans.
26 fingers, no thumb, missing shin…
The couple of new parents then discover their child, and at a glance understand that nothing is wrong.
“Seeing our child who is deformed, I tell myself it’s not possible”, explains the father today to Aisne Nouvelle.
In this case, little Alice has 26 fingers instead of 20, does not have a thumb on her hands, and, in the absence of a tibia, finds herself with a foot instead of a knee. “I counted his fingers several times.”remembers his father, remaining moved by this birth even today.
Seven months later the diagnosis was made: the baby had Laurin-Sandrow syndrome, an extremely rare genetic disorder, with only a few documented cases worldwide.
A constant fight for Alice’s well-being
Since then, the lives of Alice and her parents have been a struggle of surgeries and legal battles. The baby has one leg amputated and undergoes a major hand operation in September 2023. On May 21, his other leg will be amputated. In October 2024 it will be the other hand. The little girl is now recognized as 80% disabled, which does not facilitate adaptations to daycare and her start in life.
But above all, the parents took legal action. Through the voice of their lawyer they do not understand that the obstetrician was capable “to indicate the sex of the child but did not see that he had 26 fingers, that his left foot was curled up, that the left leg being devoid of a tibia, the foot was at the level of the knee! Despite the challenges this state imposes on them, the parents intend to offer Alice the best possible life, starting with an explanation.
The 5th month ultrasound should not miss all this
Consulted on the subject, gynecologist Odile Bagot, member of our committee of experts, does not hide her surprise upon discovering the case in question. Especially since the 5th month morphological ultrasound is supposed to be the most precise on this subject.
“Normally on ultrasound, the classic check-up must verify that we have 3 limb segments, that is to say an arm, a forearm, a hand, or a thigh, a leg, a foot. If it remains possible to not be able to have all the fingers (on a 2D image and in sections) and to discover a 6th finger at birth for example, missing 6 at once still seems like a lot to me.” .
But it’s the story of the missing shin and the foot at knee level that surprises him the most.
“The foot inserted at the knee shows that a segment is clearly missing. The only explanation would be that the ultrasound machine followed the right leg and thought it was following the left while it was still on the right, because of the movement of baby But the in-depth examination was therefore not carried out completely.
An error confirmed by another Parisian gynecologist contacted who was especially surprised that this could happen today in France. “When we work with people who only do fetal imaging as is the case today, it seems impossible to me that they miss so many malformations, particularly of the foot, at the knee, or when a member is absent” he notes.